The common name of the mutation is displayed in the status bar (at the bottom of the browser) when the mouse is held over the marker.
Clicking on a marker links to a more detailed description of the mutation.
smI polymorphism 3-4kb 5' of LDLR gene
GTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTT
---------+---------+---------+---------+---------+---------+
CAACAATAGGAAGACACCTGTTGTTGTCGTTTTACAATTGTCAATTTGTAGCTCTTTAAA
FH110 (P) C--------------
CAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGA
---------+---------+---------+---------+---------+---------+
GTCCTCCTAGAAAGTCTTCTACGCAAAGGTTAAAACTCCCCCGCAGTCGAGAAGTGGCCT
374
*
----C FH1 (P) G-----
GACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGG
---------+---------+---------+---------+---------+---------+
CTGGGTTTATGTTGTTTAGTTCAGCGGACGGGACCGCTGTGAAAGCTTCCTGACCTCACC
233
*
Repeat1
------------------T xxxxxxxxxxxxx
GAATCAGAGCTTCACGGGTTAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCT
---------+---------+---------+---------+---------xxxxxxxSp1
CTTAGTCTCGAAGTGCCCAATTTTCGGCTACAGTGTAGCCGGCAAGCTTTGAGGAGGAGA
438
105
292
104
103 172 246 * *
* * * * *
Repeat3
Repeat2 xxxxxxxxxxxxxxxx
xxxxxxxxxxxxxxx
SRE-1
xxxxxxxx
xxx FH2 (e1) A-------------------
TGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAA
---------+---------+---------+---------+xxxxxxxxSp1 -------^minus31
ACGTCACTCCACTTCTGTAAACTTTTAGTGGGGTGACGTTTGAGGAGGGGGACGATCTTT
*position minus1 in Hobbs numbering
C----------------------G FH111 (e1)
----A ++ + + + +
CCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGT
TATA-boxes multiple start sites
+++++++ +++++++ ^start of mRNA
GGAGTGTAACTTTACGACATTTACTGCACCCGGGGCTCACGTTAGCGCCCTTCGGTCCCA
G------------------------C FH20B (P)
247
*
TTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCG
^--------+---------+---------+---------+---------+---------+
AAGGTCGATCCTGTGTCGTCCAGCACTAGGCCCAGCCCTGTGACGGACCGTCTCCGACGC
G------------------A FH130B (P)
421
2
357
106,107,108,328,356,422,433,445,602
248 1 * 260,307
* * * * * *
*nucleotide position plus1 in Hobbs numbering
AGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCG
---^1----+---------+---------+---------+---------+---------+
TCGTACCCCGGGACCCCGACCTTTAACGCGACCTGGCAGCGGAACGAGGAGCGGCGCCGC
M G P W G W K L R W T V A L L L A A A
626
*
#intron1
GGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGG
---------^67-------+---------+---------+---------+---------+
CCCTGACGTCCATTCCGAACGAGGTCCGCGGTCTTATCCAACTCTCCCTCGGGGGCCCCC
FH21B (e1)C-----------------------T
FHH131B (e1)C----------------------C
G T A
1 (codon 1 in Hobbs numbering, first aminoacid of mature
protein)
FH112 (e2) T---------------------
FH3 (e2) C------------
ATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTT
---------+---------+---------+---------+---------+---------+
TATCTGTGTCCTTTGCACCAGTCAAAGACTAAGACCGCAACTCTCTGGGAAAGAGGAAAA
109,110,111,112,113,114,115,116,270,272,426,434,616,604,663
277 5,252
461 * 677 4 301 283 462 6 308 358
* * * * * * * * * * *
______________________binding domain repeat I (not
SfaNI
-C ....C T/C polymorphism
-----------G
#exon2
CCTCTCTCTCAGTGGGCGACAGATGTGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAAT
---------+--^68----+---------+---------+---------+---------+
GGAGAGAGAGTCACCCGCTGTCTACACTTTCTTTGCTCAAGGTCACGGTTCTGCCCTTTA
V G D R C E R N E F Q C Q D G K C
10
important to apoB nor apoE binding)_________________________
633
383 495 683
382 7 8,449 330 9 470 * 10
* * * * * * * * * *
GCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGT
---------+---------+---------+---------+---------+---------+
CGTAGAGGATGTTCACCCAGACGCTACCGTCGCGACTCACGGTCCTACCGAGACTACTCA
I S Y K W V C D G S A E C Q D G S D E S
20 30 ---------------
DXSDE
_______________
761
*
#intron 2
CCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAG
---------+----^190-+---------+---------+---------+---------+
GGGTCCTCTGCACGACACTCAGGGGAAACCCGTACTATACGTAAATAAAAACATTATCTC
A-----------------------A FH22B (e2)
Q E T C G------------------G FH132B (e2)
40
117,118,119,273,401,414,424,427,431,435,601
760
202
*
* *
FH113 (e3) T----------------------C
FH4 (e3) T---------------------------G #exon3
GCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGT
---------+---------+---------+---------+---------+-------^191
CGAGCCGGAGTCACCCAGAAAGGAAACTCACTGTCAAGTTAGGACAGAGAAGACATCACA
L S -
__binding domain repeat II (needed for apoB binding)________
684
686 390 184
634 226 * 681 251 305 304 388
* * * * * * * * * *
CTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTC
---------+---------+---------+---------+---------+---------+
GACAGTGGACGTTTAGGCCCCTGAAGTCGACACCCCCGGCACAGTTGGCGACGTAAGGAG
V T C K S G D F S C G G R V N R C I P Q
50 60
____________________________________________________________
199,238
359 442
200 487
198 309 12 306 14 389 368
11 * * 453 454,765,766 162 175,201,13 *
* * * * * * * * * * * * * *
AGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTC
---------+---------+---------+---------+---------+---------^313
TCAAGACCTCCACGCTACCGGTTCACCTGACGCTGTTGCCGAGTCTGCTCGTTCCGACAG
F W R C D G Q V D C D N G S D E Q G C
70 80
------------------
DXXSDE
152
15,173,151,163,635
*
*
#intron3
GTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTT
---------+---------+---------+---------+---------+---------+
CATTCACACCGGGACGGAAACGATAACTCGGATAGACTCAGGACCCCTCACCAGACTGAA
C-----------------------A FH23B (e3)
G----------------------G FH133B (e3)
ApaLI polymorphism
?
120,279,436,605
153
*
*
_____
FH114 (e4A) G------------------C
FH51 (e4) SalI ext AAAGTCGAC G-------------------G #exon4
CTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCATCCATCCCTGCAGCCCCC
---------+---------+---------+---------+---------+-----^314-
GACCACAACCCTCTGAAGTGTGCCACTACCACCAGAGCCGGTAGGTAGGGACGTCGGGGG
P P -
ex45' FH51 + FH52
ex4M FH53 + FH54
ex43' FH55 + FH56/169
______________________binding domain repeat III (needed for
T rare variant
310,646
16,176 369,689
517 360 384 692 693
767 17,63 366 311 690 691 404
484 * * 688 621 * 397 * 403 653 * * 694
* * * * * * * * * * * * * * * *
AAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTC
---------+---------+---------+---------+---------+---------+
TTCTGCACGAGGGTCCTGCTCAAAGCGACGGTGCTACCCTTCACGTAGAGAGCCGTCAAG
K T C S Q D E F R C H D G K C I S R Q F
90 100
apoB binding)_____________________________________ __binding
313,492 154
18 312 697
410 695 329 19,20 630
* 622 412 696 * 337 413 624 *
* * * * * * * * * * * * *
FH53 (e4M) A-------------------T
GTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTC
---------+---------+-^400----+---------+---------+-----^434
CAGACACTGAGTCTGGCCCTGACGAACCTGCCGAGTCTGCTCCGGAGGACGGGCCACGAG
V C D S D R D C L D G S D E A S C P V L
110 120
---------------
DXSDE
domain repeat IV(needed for apoB binding)___________________
719
354 420
720 355,721
284,698 21 203 3,699
* * 457 416 * *
* * * * * * *
FH115 (e4B) C---------------
ACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCC
---------+---------+---------+---------+---------+---------+
TGGACACCAGGGCGGTCGAAGGTCACGTTGTCGAGGTGGACGTAGGGGGTCGACACCCGG
T C G P A S F Q C N S S T C I P Q L W A
130 140
____________________________________________________________
187,428 466
204,22,423 235,391 702,722 331
250,700 23,186 25 254 236,599
185 167,701 24,432,463,464 703 467 649
* 557 * 465 * 361 * * 378
* * * * * * * * * * * * * * * *
---G C-----------------G FH55 (e43')
TGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGT
-^500----+---------+---------+---------+---------+---------+
ACGCTGTTGCTGGGGCTGACGCTTCTACCGAGCCTACTCACCGGCGTCGCGACATCCCCA
G------------------A FH134B (e4A)
C D N D P D C E D G S D E W P Q R C R G
150 160
---------------
DXSDE
_________________ __binding domain repeat V (vital for apoE
482
27,28 705
398 400 483
194 26,704 654 399 * 474 627 *
* * * * * * * * * *
CTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGT
---------+---------+---------+---------+-^600----+---------+
GAAATGCACAAGGTTCCCCTGTCATCGGGGACGAGCCGGAAGCTCAAGGTGACGGATTCA
FH54 (e4M) C----------------G
L Y V F Q G D S S P C S A F E F H C L S
170 180
and needed for apoB binding)________________________________
258 332
679 178
30,256 676,707
268 257,651 31,768 34,253,600
636 711 155,205 706 177,490 33 35
29 * 723 298 652 * * * * * 269,402
* * * * * * * * * * * * * * * *
GGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCT
---------+---------+---------+---------+---------+---------+
CCGCTCACGTAGGTGAGGTCGACCGCGACACTACCACCGGGGCTGACGTTCCTGTTTAGA
G E C I H S S W R C D G G P D C K D K S
190 200
---------..
DXSDE
________________
709
207
710
708 405
37,39,314,38 499
32,36,239,439,497,498
206,493,637,770 500
* * * * * 501
* * * * * *
TaqI polymorphism?where
#intron4
GACGAGGAAAACTGCGGTATGGGCGGGGCAGGGTGGGGGCGGGGCGTCCTATCACCTGTC
---------+-----^694+---------+---------+---------+---------+
CTGCTCCTTTTGACGCCATACCCGCCCCGTCCCACCCCCGCCCCGCAGGATAGTGGACAG
C------------------C FH135B (e4B)
C--------------
C--------------
D E E N C
------ 210
CCTGGGCTCCCCCAGGTGTGGACATCGAGTGATTTAGGTGCCGAAGTGGATTTCCAACAA
---------+---------+---------+---------+---------+---------+
GGACCCGAGGGGGTCCACACCTGTAGCTCACTAAATCCACGGCTTCACCTAAAGGTTGTT
------AGGG FH56 (e43')
------GAGG FH169 (e43')
FH116 (e5) A------------
FH5 (e5) C-----
CACCCGGCAAAAGGCCCTGCTTGTTTTTCTCTGGTTGACTCTTCTTGAGAAAATCAACAC
---------+---------+---------+---------+---------+---------+
GTGGGCCGTTTTCCGGGACGAACAAAAAGAGACCAACTGAGAAGAACTCTTTTAGTTGTG
______binding domain repeat VI (needed fo
----------G
------------------G
278 41
121,122,123 632 40 674 293 285
* * * * * * * *
#exon5
ACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGAT
---------+---------^695-^700-+---------+---------+---------+
TGAGACAGGACAAAAGGTCGACACCGGTGGACAGCGGGACTGCTTAAGGTCACGAGACTA
A V A T C R P D E F Q C S D
220
apoB binding)_______________________________________________
502
43
333 712 714
208 42,407 375 315 * 631,713 647 362
* * * * * * * * * * *
GGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGC
---------+---------+---------+---------+---------+---------+
CCTTTGACGTAGGTACCGTCGGCCGTCACACTGGCCCTTATACTGACGTTCCTGTACTCG
G N C I H G S R Q C D R E Y D C K D M S
230 240 ---------..
DXSDE
______________________
T/C rare silent
489
44 504
468,469,503
* 45
* * * *
#intron5
GATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTC
----^800-+---------+-^817----+---------+---------+---------+
CTACTTCAACCGACGCAATTACCACTCGCGACCGGTAGACCAAAAGGTAGGGGGTAAGAG
FH24B (e5) C-----------------------G
FH136B (e5) G------------------G
D E V G C V N
------ 250
FH117 (e6) T------------------C
FH6 (e6) T-----------------
TGCCAAGCAACGAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCT
---------+---------+---------+---------+---------+---------+
ACGGTTCGTTGCTTTGACTCCGAGTCTGTGTGGACTGGAAGGAGGAAGGAGAGAGACCGA
_________________binding domain repeat VII (needed for
------G
195
506,507
668 715
673 597 619 46
* 505 * * 724 508 316,509
* * * * * * * * *
#exon6
CTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATC
-------^818--------+---------+---------+---------+---------+
GAGTGTCACTGTGAGACGCTCCCTGGGTTGTTCAAGTTCACAGTGTCGCCGCTTACGTAG
V T L C E G P N K F K C H S G E C I
260
apoB binding)_______________________________________________
512
409 363
249,408 179
156 717 511 455 47,229 49,513
716 334 638 510 * * 48 * 50
* * * * * * * * * * * * * *
ACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATC
---------+---------+---------^900------+---------+---------+
TGGGACCTGTTTCAGACGTTGTACCGATCTCTGACGGCCCTGACCAGTCTACTTGGGTAG
T L D K V C N M A R D C R D W S D E P I
270 280 ---------------
DXSDE
______________
349 639
230 210,471
209,227 51,286
* 514 *
* * * * *
#intron6
AAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGG
---------^940 --+---------+---------+---------+---------+
TTTCTCACGCCACTCAGAGCCACGTCCGCCGAACGTCTCAAACACCCCTCGGTCCTTTCC
C-----------------------G FH25B (e6)
G------------------T FH137B (e6)
K E C
290
SphI polymorphism
FH118 (e7) G------------------G
TGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACC
---------+---------+---------+---------+---------+---------+
ACCTCCAACATTACTCGGTTCCAACCGCCGCTTCCCTACCCATCCCCGGGCTCTCACTGG
____EGF precursor homology domain A
240,52
317 188,640
124,125,126,127,128,129,130,443,617,614,606,607,608,609,670
515 * 623
* * * * *
#exon7
A-----------------------G FH7 (ex7)
AGTCTGCATCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGT
---------+---------+-----^941 ---------+---------+---------+
TCAGACGTAGGGACCGGGACGCGTCCCTGGTTGCTTACGAACCTGTTGTTGCCGCCGACA
G T N E C L D N N G G C
300
____________________________________________________________
620 56
380 335 54,516 55
450 53 718 280,336,518 212
211 * 339 * * * 685 * 213
* * * * * * * * * *
TCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAG
---------+--------- ^1000+---------+---------+---------+
AGGGTGCAGACGTTACTGGAATTCTAGCCGATGCTCACGGACACGGGGCTGCCGAAGGTC
S H V C N D L K I G Y E C L C P D G F Q
310 320
__________________________
214 241,350,666
215 57
447 650
641 * * 520
* * * * * *
#intron 7
CTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCCGGTGGACTGAGCCCTGGGCCCCCTC
---------+---------+----^1060+---------+---------+---------+
GACCACCGGGTCGCTTCTACGCTTCCACTAAGGGGCCACCTGACTCGGGACCCGGGGGAG
C-----------------------A FH26B (e7)
L V A Q R R C E
330
0.15kb
TGCGCTTCCTGACATGGCAACCAAACCCTCATGCCTCAGTTTCCCNNNNNNNNNAAAAAG
---------+---------+---------+---------+---------+---------+
ACGCGAAGGACTGTACCGTTGGTTTGGGAGTACGGAGTCAAAGGGNNNNNNNNNTTTTTC
C------------------G FH138B (e7)
318
58,234,59,603,522,671
496,521
302,338 *
* * *
______
FH119
(e8) C------------------C #exon8
FH8 (e8) C-----------------------G
CTCTAGGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCG
---------+---------+---------+---------+---------+----^1061
GAGATCCGGTAACCCCTTCTCGGAGGGGTGGTTCGGAGAAAGAGAGAGAAGGTCTATAGC
D I D
___EGF precursor homology domain B__________________________
299 528
525 231 672 527
60,472,667 473 62 526 282 385
319 478 61 523,524 * 411 * 725 * 320 *
* * * * * * * * * * * * * * *
ATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACA
---------+---------+---------+---^1100 +---------+---------+
TACTCACAGTCCTAGGGCTGTGGACGTCGGTCGAGACGCACTTGGACCTCCCACCGATGT
E C Q D E D T C S Q L C V N L E G G Y K
340 350
StuI
..A...(nt A rare)
__________________________________________________
530
727 364 642 618 180
529 64 440 242 728 485
* * 531 * 532 441 228 * 157,628 *
* * * * * * * * * * * *
AGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGG
---------+---------+---------+---------+---------+---------^1186
TCACGGTCACACTCCTTCCGAAGGTCGACCTGGGGGTGTGCTTCCGGACGTTCCGACACC
C Q C E E G F Q L D P H T K A C K A V
360 370
#intron 8
GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGG
---------+---------+---------+---------+---------+---------+
CACTCGTGCCCTTCCGCCGCCCACCCCCGCCGGAGTGGGGAACGTCCGTCGTCACCACCC
C-----------------------C FH27B (e8)
G------------------G FH139B (e8)
1.0kb T-
CAGACTCATATCCCCTGACCGGNNNNNNNNNNNNNNNNNNNGGGGAGGCACTCTTGGTTC
---------+---------+---------+---------+---------+---------+
GTCTGAGTATAGGGGACTGGCCNNNNNNNNNNNNNNNNNNNCCCCTCCGTGAGAACCAAG
131,132,429,444
762 217
287 533,534
* *
* * *
FH120 (e9) C------------------G
----------------------C FH9 (e9) #exon9
CATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCC
---------+---------+---------+---------+---------^1187-----+
GTAGCTGCCCAGGGGAGACTGGGGGACTGGAGCGAGGGGCCTGGGGGTCCGAGGTAGCGG
G S I A
MspI
.A..
377 321
181 451 538 379
535 536 537 372 244,216
* 758 294 * 65 488 * * 729 539
* * * * * * * * * * * * *
TACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTAC
--^1200--+---------+---------+---------+---------+---------+
ATGGAGAAGAAGTGGTTGGCCGTGCTCCAGTCCTTCTACTGCGACCTGGCCTCGCTCATG
Y L F F T N R H E V R K M T L D R S E Y
380 390
542
66,598 68,288
540 261,475
196 680 655 * 67 541 * 340
* * * * * * * * *
ACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAAT
---------+---------+---------+---------+--^1300--+---------+
TGGTCGGAGTAGGGGTTGGACTCCTTGCACCAGCGAGACCTGTGCCTCCACCGGTCGTTA
T S L I P N L R N V V A L D T E V A S N
400 410
730
70 477 544
69 164,182 341
* 71,543 * 731 *
* * * * * *
#intron9
AGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCT
---------+---------+---------+---------+^1358----+---------+
TCTTAGATGACCAGACTGGACAGGGTCTCTTACTAGACGTCCACTCGCAGCGGGGACGGA
FH140B (e9) C--------------
R I Y W S D L S Q R M I C
------------ 430
YWSD
GCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGTGCTGATGCCCTTCTCTCCTCCTG
---------+---------+---------+---------+---------+---------+
CGTCGGAACCGGGCGTCCACTCTACTCCCGAGGACCACGACTACGGGAAGAGAGGAGGAC
----G A-----------------------A FH28B (e9)
425
158
446 * 218
* * *
A------------------C FH121 (e10)
A-----------------C FH10 (e10) #exon10
GTGAGATGAGGGCTCCTGGTGCGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGA
---------+---------+---------+---------+--------^1359------+
CACTCTACTCCCGAGGACCACGCTACGGGAAGAGAGGAGGACGGAGTCGTGGGTCGAACT
S T Q L D
327
386,545 732 546,733 547
* * * * *
A(polymorphism)
CAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGGGACATCCAGGCCCCCGA
---------+---------+---------^1400 ----+---------+---------+
GTCTCGGGTGCCGCAGAGAAGGATACTGTGGCAGTAGTCGTCCCTGTAGGTCCGGGGGCT
R A H G V S S Y D T V I S R D I Q A P D
440 450
264,295
220
322 237,219 73 165 74 189
72 387 * 734 678 323 415 395,548
* * * * * * * * * * * * * *
FH11 (e10B) G-----------------------C
CGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCAC
---------+---------+---------+---------+---------+---------+
GCCCGACCGACACCTGACCTAGGTGTCGTTGTAGATGACCTGGCTGAGACAGGACCCGT
G L A V D W I H S N I Y W T D S V L G T
460 470
------------
YWTD
735 550 643
549 476 736 551
* * * * * * *
TGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTC
---------^1500-----+---------+---------+---------+---------+
ACAGAGACAACGCCTATGGTTCCCGCACTTCTCCTTTTGCAATAAGTCCCTCTTGCCGAG
A-----------------------G FH29B (e10A)
V S V A D T K G V K R K T L F R E N G S
480 490
76
381 75,448 739 324 197
* * * * * *
#intron10
CAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGC
---------+---------+---------+-----^1586--------- -----+
GTTCGGTTCCCGGTAGCACCACCTAGGACAAGTACCCACGCATAGGTGCTGCGACTCCCG
FH30B (e10B) C-----------------------
FH141B (e10) A------------------
K P R A I V V D P V H
500
2.5kb FH122 (e11) T------------
TGCAGGTCGACTCTAGAGGATCNNNNNNNNNNNNNNNNNNNNNNGGATCCTCCCCCGCCC
---------+---------+---------+---------+---------+---------+
ACGTCCAGCTGAGATCTCCTAGNNNNNNNNNNNNNNNNNNNNNNCCTAGGAGGGGGCGGG
A
A
738
552
133,262,274,611
737 * 160 77
* * * * *
FH12(e11) C-----------------------G
------C #exon11
TCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGA
---------+---------+--------- -^1587--------^1600 -----+
AGGTCGGAGTGTCGATAAGAGACAGGAGGGTGGTCGAAGTACATGACCTGACTGACCCCT
G F M Y W T D W G -
510------------
YWTD
232,79
159 740
243 78 553 * 171 245 266 554
* * * * * * * * *
ACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACT
---------+---------+---------+---------+---------+---------+
TGAGGGCGGTTCTAGTTCTTTCCCCCGGACTTACCACACCTGTAGATGAGCGACCACTGA
T P A K I K K G G L N G V D I Y S L V T
520 530
556
555
342
417 168 365
271 * * 80,394 558 166,303
* * * * * * * *
#intron 11
GAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAG
---------+---------+--------^1700^1705-+---------+---------+
CTTTTGTAAGTCACCGGGTTACCGTAGTGGGATCCATACAAGCGTCCTGTCGGCAGGGTC
FH31B (e11) C-----------------------T
FH142B (e11) G------------------
E N I Q W P N G I T L
540
FH123 (e12) A------------------C
FH13 (e12) G---------------
GGAGCAGCGTGGCCAGGCCCTCAGGCCCTCTGGGACTGGCATCAGCACGTGACCTCTCCT
---------+---------+---------+---------+---------+---------+
CCTCGTCGCACCGGTCCGGGAGTCCGGGAGACCCTGACCGTAGTCGTGCACTGGAGAGGA
741 81 82,561
479,494 560 169 83
459 656 * 559 * * 742 418
* * * * * * * * *
--------T #exon12
TATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTT
---------+------- ^1706 ----+---------+---------+---------+
ATAGGTGAACACACAGATCTAGAGGAGTCACCGGCGGAGATGACCCAACTGAGGTTTGAA
D L L S G R L Y W V D S K L
550 ------------ 560
YWVD
563
562
657 190 480
486,664 564
263 743 373 84 * * 300 325 * 85 745
* * * * * * * * * * * *
HincII
.....C
CACTCCATCTCAAGCATCGATGTCAATGGGGGCAACCGGAAGACCATCTTGGAGGATGAA
---------+---------+---------+---------+---------+---^1800 +
GTGAGGTAGAGTTCGTAGCTACAGTTACCCCCGTTGGCCTTCTGGTAGAACCTCCTACTT
H S I S S I D V N G G N R K T I L E D E
570 580
393,568
567,662 763,764
565,566 87
746 * 296 726 569 *
* * * * * * *
#intron 12
AAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATC
---------+---------+---------+--------^1845------+---------+
TTCTCCGACCGGGTGGGGAAGAGGAACCGGCAGAAACTCCACACCGAATGCATGCTCTAG
FH32 (e12) G----------
K R L A H P F S L A V F E
590
GAAGCACTTAGGTGGCCGGATAGACACACGACTATAGATCACTCAAGCCAAGATGAACGC
---------+---------+---------+---------+---------+---------+
CTTCGTGAATCCACCGGCCTATCTGTGTGCTGATATCTAGTGAGTTCGGTTCTACTTGCG
-------------C
C------------------C FH143B (e12)
BstEII polymorphism
2.9kb
FH124 (e13) G-----------------
FH14 (e13) G-----------------
AGAAAACTCGGTTGTGACTAGGAGGAGGTCTTNNNNNNNNNNGTCATCTTCCTTGCTGCC
---------+---------+---------+---------+---------+---------+
TCTTTTGAGCCAACACTGATCCTCCTCCAGAANNNNNNNNNNCAGTAGAAGGAACGACGG
134,135,136,137,138,275,430,610,612,771
744,747 658
174 570 267
* * 571 289 572 * 221
* * * * * * *
-G #exon13
------G
TGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCG
-------^1846 ------+---------+---------+---------+---------+
ACAAATCCTGTTTCATAAAACCTGTCTATAGTAGTTGCTTCGGTAAAAGTCACGGTTGGC
D K V F W T D I I N E A I F S A N R
600 610
------------
FWTD
222 573 751
370 625 748 224 223 749,750
* * * * * * * * *
AvaII
...
CCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGT
-^1900---+---------+---------+---------+---------+---------+
GGAGTGTCCAAGGCTACAGTTGAACAACCGACTTTTGGATGACAGGGGTCTCCTATACCA
L T G S D V N L L A E N L L S P E D M V
620 630
290
419,665 371 291 574
* * * * *
T. #intron13
CCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGGGNTCAGCCCCACCCCCCCAACCT
---------+---------+--------^1987------+---------+---------+
GGAGAAGGTGTTGGAGTGGGTCGGTTCTCCATTCCCCCNAGTCGGGGTGGGGGGGTTGGA
T----
G-----------
L F H N L T Q P R
640
FH125 (e14) A------------------G
TGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAG
---------+---------+---------+---------+---------+---------+
ACTTTGGAGGAACACCTTTGAGACCTTACAAGACCTTTAAAGACCTTAGAAGACCATATC
-------------------G FH33B (e13)
-----------------T FH144B (e13)
_____..
576
575
752 193,577
367,613,669 88,392
756 * *
* * * * *
#exon14
FH15 (e14) C-----------------------G
CTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGA
---------+---------+---------+---------+----^1988 -----^2000
GACTACTAGAGCAAGGACGGGACTGAGGCGAAGAAGACGGGGTCCTCACTTGACCACACT
G V N W C E -
_____EGF precursor homology domain repeat C_________________
A(rare silent, Kiln.Wosch. 69:517)
659,753 92 94
90 191 351 582
578,579 580 581 93 644,754 583
89 645 * 91,343 * * * 352,481
* * * * * * * * * * * * *
GAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAA
---------+---------+---------+---------+---------+---------+
CTCCTGGTGGGACTCGTTACCGCCGACGGTCATAGACACGGAGGGACGGGGCGTCTAGTT
R T T L S N G G C Q Y L C L P A P Q I N
650 660
____________________________________________________________
585
95
584,755
682 458 * 192 456 675
* * * * * * *
CCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACAT
---------+---------+---------+------^2100--------+---------+
GGGGGTGAGCGGGTTCAAATGGACGCGGACGGGCCTGCCGTACGACGACCGGTCCCTGTA
P H S P K F T C A C P D G M L L A R D M
670 680
__________
452
86,660
586
* 344
* * *
#intron14
GAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTG
---------+------^2140 -------+---------+---------+---------+
CTCCTCGACGGAGTGTCCACACCGTGTGCGGAACAAAGACGCAGGACACAGGAGGTTGAC
C-----------------------C FH34B (e14)
R S C L T
690
SpeI }
ApaLI }polymorphisms
PvuII }
CCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCNNNNNNNNNNNNNNNNN
---------+---------+---------+---------+---------+---------+
GGGGGAGGACTCGGAGAGAGACGAGTAGACAGTTTACCCATGGNNNNNNNNNNNNNNNNN
G------------------G FH145B (e14)
FH16 (e15) G-----------
GGCCTCCCAAGGTCATTTGAACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCA
---------+---------+---------+---------+---------+---------+
CCGGAGGGTTCCAGTAAACTTGAAAGCAGTAATCCGCGTGTGGATACTCTTCCCGGACGT
___O-linked sugars___
139,140,141
*
FH126 (e15) A--------------------C
------------T #exon15
GGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCA
---------+---------+---------+---------^2141 ---+---------+
CCGTGCACCGTGAGTCTTCTGCAAATAAATAAGAAAGTCTCCGACTCCGACGTCACCGGT
E A E A A V A T -
700
____________________________________________________________
757,769 96 661 687 587
* * * * *
CCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACA
---------+---------+---------+--------^2200 -----+---------+
GGGTCCTCTGTAGGTGGCAGTCCGATTTCCAGTCGAGGTGTCGGCATTCCTGTGTCGTGT
Q E T S T V R L K V S S T A V R T Q H T -
710 720
____________________________________________________________
MspI MspI
...A ....
588
*
CAACCACCCGGCCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCA
---------+---------+---------+---------+---------+---------+
GTTGGTGGGCCGGACAAGGGCTGTGGAGGGCCGACGGACCCCGGTGGGGACCCGAGTGGT
T T R P V P D T S R L P G A T P G L T T -
730 740
______________________________
259
97 589 326
* * *
#intron15
CGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCGCCACCACACTCGGC
---------+--------^2300------^2311-----+---------+---------+
GCCACCTCTATCACTGTTACAGAGTGGTTCCATTTCTGACCCGGGCGGTGGTGTGAGCCG
FH35B (e15) C-----------------------G
FH146B (e15) T---------------------G
V E I V T M S H Q
FH127 (e16) C------------------C
FH17 (e16) C--------------------
GCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCT
---------+---------+---------+---------+---------+---------+
CGGACGAGGTAAAGAACCACCGGAAGGAAATCTGGACCCGGAGTGAGAACGAAGAGAGGA
519 591 345
142,143,144,146,147,276,145,615 592
* * * * *
#exon16
---G
GCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCT
-- ^2312 ---------+---------+---------+---------+---------+
CGTCGAGACCCGCTGCAACGACCGTCTCCTTTACTCTTCTTCGGGTCATCGCACTCCCGA
A L G D V A G R G N E K K P S S V R A
750 760
transmembrane domain.......
347,396
346,259
98 *
* *
#intron16
CTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCAC
---------+---------+-^2389---+---------+---------+---------+
GACAGGTAACAGGAGGGGTAGCCATTCGCGCCCGGCCAGGGGGTCGCAGGGGGTCCAGTG
C-----------------------C FH36B (e16)
C-----
L S I V L P I
770
AGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGA
---------+---------+---------+---------+---------+---------+
TCGGAGGGCGATACACTGGAGCACGGACCGACCAACCCGGACAAGTGAAAAAGAGGACCT
-------------C FH147B (e16)
FH128 (e17) G------------------C
FH18 (e17) T------------
TTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGC
---------+---------+---------+---------+---------+---------+
AAGTGAGGTCGGTGCCTCGACCCAGAGACCAGAGCCCCCGTCGACACACTGTCTCGCACG
149,150,148
460 491,648,629
161,590 759
* 225 348 * 170 281
* * * * * * *
.....transmembrane domain_____________________ ______
#exon17
-----------G
CTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACT
---------+- ^2390 +- ^2400 -+---------+---------+---------+
GAGAGGGATGTCACGAGGAGCAGAAGGAAACGGACCCCCAGAAGGAAGATACCTTCTTGA
V L L V F L C L G V F L L W K N W
780 790
__cytoplasmic domain________________________________________
376 101 102
99 100 593 265,297,594
* * * * * * *
GGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAG
---------+---------+ ^2460 +---------+---------+---------+
CCGCCGAATTCTTGTAGTTGTCGTAGTTGAAACTGTTGGGGCAGATAGTCTTCTGGTGTC
R L K N I N S I N F D N P V Y Q K T T E
800 ------------ 810
NPXY
__________________________________________________
183
*
#intron17
AGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGTGA
--^2500 +---------+---------+---------+---------^2547 ----+
TCCTACTCCAGGTGTAAACGGTGTTGGTCCTGCCGATGTCGATGGGGAGCCACTCACACT
C---------
D E V H I C H N Q D G Y S Y P S
820
1.55kb
CCCTCTCTAGAAAGCCAGAGCCATGGCGGCCCCCTCCCAGCTGNNNNNNNNNNNNNNNNN
---------+---------+---------+---------+---------+---------+
GGGAGAGATCTTTCGGTCTCGGTACCGCCGGGGGAGGGTCGACNNNNNNNNNNNNNNNNN
--------------G FH37B (e17)
G--------------------G FH148B (e17)
FH129
(e18) G------------------G
FH19 (e18) T---------------------
GCCCTCCAGCCTGTTTCCTGAGTGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGG
---------+---------+---------+---------+---------+---------+
CGGGAGGTCGGACAAAGGACTCACGACCTGACTATCAAAGGCGACAAATGGTAAACAACC
..___________cytoplasmic domain___
596
595 353
* * *
#exon18
--G
CAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGCC
---^2548 ---------+---------+-----^2580 -------+---------+
GTCTCTGTCTACCAGTCAGACCTCCTACTGCACCGCACTTGTAGACGGACCTCAGGGCGG
R Q M V S L E D D V A *
830 839
MspI
....
CCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGAC
---------+---------+---------+---------+---------+---------+
GGACGGGTCTTGGGAAGGACTCTGGAGCGGCCGGAACAAAATAAGTTTCTGTCTCTTCTG
C-----------------------A FH38B (e18)
C------------------T FH149B (e18)
CAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGG
---------+---------+---------+---------+---------+---------+
GTTTCGTAACGGACGGTCTCGAAACAAAATATATAAATAAGTAGACCCTCCGTCTTGTCC
CTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTGTGA
---------+---------+---------+---------+---------+---------+
GAAGCCTGTCACGGGTACGTTACCGAACCCAACCCTAAAACCAAAGAAGGAAAGGACACT
AGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGT
---------+---------+---------+---------+---------+---------+
TCCTATTCTCTTTGTCCGGGCCCCCCTGGTCCTACTGTGGAGGTAAAGAGAGGTCCTTCA
TTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGCAGGGGAT
---------+---------+---------+---------+---------+---------+
AAACTCAAAGAGAGGTGGCACTGTGTTAGGAGTTTGTACCTTCTACTTTCCCGTCCCCTA
GTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACC
---------+---------+---------+---------+---------+---------+
CAGTCCGGGTCTCTTCGTTCACCGAAAGTTGTGTGTTGTCGTCTACCGTGGTTGCCCTGG
CCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGT
---------+---------+---------+---------+---------+---------+
GGGACCGGGACGGAGTAGGTGGTTAGAGATTCGGTTTGGGGATTTGAGTCCTCAGTTGCA
GTTTACCTCTTCTATGCAAGCCTTGCTAGACAGCCAGGTTAGCCTTTGCCCTGTCACCCC
---------+---------+---------+---------+---------+---------+
CAAATGGAGAAGATACGTTCGGAACGATCTGTCGGTCCAATCGGAAACGGGACAGTGGGG
CGAATCATGACCCACCCAGTGTCTTTCGAGGTGGGTTTGTACCTTCCTTAAGCCAGGAAA
---------+---------+---------+---------+---------+---------+
GCTTAGTACTGGGTGGGTCACAGAAAGCTCCACCCAAACATGGAAGGAATTCGGTCCTTT
GGGATTCATGGCGTCGGAAATGATCTGGCTGAATCCGTGGTGGCACCGAGACCAAACTCA
---------+---------+---------+---------+---------+---------+
CCCTAAGTACCGCAGCCTTTACTAGACCGACTTAGGCACCACCGTGGCTCTGGTTTGAGT
TTCACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCACCGGTCACCCTTAATATT
---------+---------+---------+---------+---------+---------+
AAGTGGTTTACTACGGTGAAGGGTCTCCGTCTCGGACTCAGTGGCCAGTGGGAATTATAA
TATTAAGTGCCTGAGACACCCGGTTACCTTGGCCGTGAGGACACGTGGCCTGCACCCAGG
---------+---------+---------+---------+---------+---------+
ATAATTCACGGACTCTGTGGGCCAATGGAACCGGCACTCCTGTGCACCGGACGTGGGTCC
TGTGGCTGTCAGGACACCAGCCTGGTGCCCATCCTCCCGACCCCTACCCACTTCCATTCC
---------+---------+---------+---------+---------+---------+
ACACCGACAGTCCTGTGGTCGGACCACGGGTAGGAGGGCTGGGGATGGGTGAAGGTAAGG
CGTGGTCTCCTTGCACTTTCTCAGTTCAGAGTTGTACACTGTGTACATTTGGCATTTGTG
---------+---------+---------+---------+---------+---------+
GCACCAGAGGAACGTGAAAGAGTCAAGTCTCAACATGTGACACATGTAAACCGTAAACAC
TTATTATTTTGCACTGTTTTCTGTCGTGTGTGTTGGGATGGGATCCCAGGCCAGGGAAAG
---------+---------+---------+---------+---------+---------+
AATAATAAAACGTGACAAAAGACAGCACACACAACCCTACCCTAGGGTCCGGTCCCTTTC
CCCGTGTCAATGAATGCCGGGGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTG
---------+---------+---------+---------+---------+---------+
GGGCACAGTTACTTACGGCCCCTGTCTCTCCCCGTCCAACTGGCCCTGAAGTTTCGGCAC
ATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATGTCCGCCCACCTAGTGCTTCCACT
---------+---------+---------+---------+---------+---------+
TAGCACTTATAGCTCTTGACGGTAACAGCAGAAATACAGGCGGGTGGATCACGAAGGTGA
TCTATGCAAATGCCTCCAAGCCATTCACTTCCCCAATCTTGTCGTTGATGGGTATGTGTT
---------+---------+---------+---------+---------+---------+
AGATACGTTTACGGAGGTTCGGTAAGTGAAGGGGTTAGAACAGCAACTACCCATACACAA
TAAAACATGCACGGTGAGGCCGGGCGCAGTGGCCTCACGCCTGTAATCCCAGCACTTTGG
---------+---------+---------+---------+---------+---------+
ATTTTGTACGTGCCACTCCGGCCCGCGTCACCGGAGTGCGGACATTAGGGTCGTGAAACC
GAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG
---------+---------+---------+---------+---------+---------+
CTCCGGCTCCGCCCACCTAGTACTCCAGTCCTCTAGCTCTGGTAGGACCGATTGTTCCAC
AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCACCTGTAG
---------+---------+---------+---------+---------+---------+
TTTGGGGCAGAGATGATTTTTATGTTTTTTAATCGGCCCGCGCCACCACCCGTGGACATC
TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGC
---------+---------+---------+---------+---------+---------+
AGGGTCGATGAGCCCTCCGACTCCGTCCTCTTACCACACTTGGGCCCTTCGCCTCGAACG
AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTC
---------+---------+---------+---------+---------+---------+
TCACTCGGCTCTAACGCGGTGACGTCAGGCGTCAGACCGGACCCGCTGTCTCGCTCTGAG
CGTCTCAAAAAAAACAAAACAAAAAAAAACCATGCATGGTGCATCAGCAGCCCATGGCCT
---------+---------+---------+---------+---------+---------+
GCAGAGTTTTTTTTGTTTTGTTTTTTTTTGGTACGTACCACGTAGTCGTCGGGTACCGGA
CTGGCCAGGCATGGCGAGGCTGAGGTGGGAGGATGGTTTGAGCTCAGGCATTTGAGGCTG
---------+---------+---------+---------+---------+---------+
GACCGGTCCGTACCGCTCCGACTCCACCCTCCTACCAAACTCGAGTCCGTAAACTCCGAC
TCGTGAGCTATGATTATGCCACTGCTTTCCAGCCTGGGCAACATAGTAAGACCCCATCTC
---------+---------+---------+---------+---------+---------+
AGCACTCGATACTAATACGGTGACGAAAGGTCGGACCCGTTGTATCATTCTGGGGTAGAG
TTAAAAAATGAATTTGGCCAGACACAGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGA
---------+---------+---------+---------+---------+---------+
AATTTTTTACTTAAACCGGTCTGTGTCCACGGAGTGCGGACATTAGGGTCGTGAAACCCT
GGCTGAGCTGGATCACTTGAGTTCAGGAGTTGGAGACCAGGCCTGAGCAACAAAGCGAGA
---------+---------+---------+---------+---------+---------+
CCGACTCGACCTAGTGAACTCAAGTCCTCAACCTCTGGTCCGGACTCGTTGTTTCGCTCT
TCCCATCTCTACAAAAACCAAAAAGTTAAAAATCAGCTGGGTATGGTGGCACGTGCCTGT
---------+---------+---------+---------+---------+---------+
AGGGTAGAGATGTTTTTGGTTTTTCAATTTTTAGTCGACCCATACCACCGTGCACGGACA
GATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCCTGAGCCCAGGAGGTGGAGGTT
---------+---------+---------+---------+---------+---------+
CTAGGGTCGATGAACCCTCCGACTCCGTCCTCCTAGCGGACTCGGGTCCTCCACCTCCAA
GCAGTGAGCCATGATCGAGCCACTGCACTCCAGCCTGGGCAACAGATGAAGACCCTATTT
---------+---------+---------+---------+---------+---------+
CGTCACTCGGTACTAGCTCGGTGACGTGAGGTCGGACCCGTTGTCTACTTCTGGGATAAA
CAGAAATACAACTATAAAAAAAATAAATAAATCCTCCAGTCTGGATCGTTTGACGGGACT
---------+---------+---------+---------+---------+---------+
GTCTTTATGTTGATATTTTTTTTATTTATTTAGGAGGTCAGACCTAGCAAACTGCCCTGA
TCAGGTTCTTTCTGAAATCGCCGTGTTACTGTTGCACTGATGTCCGGAGAGACAGTGACA
---------+---------+---------+---------+---------+---------+
AGTCCAAGAAAGACTTTAGCGGCACAATGACAACGTGACTACAGGCCTCTCTGTCACTGT
GCCTCCGTCAGACTCCCGCGTGAAGATGTCACAAGGGATTGGCAATTGTCCCCAGGGACA
---------+---------+---------+---------+---------+---------+
CGGAGGCAGTCTGAGGGCGCACTTCTACAGTGTTCCCTAACCGTTAACAGGGGTCCCTGT
AAACACTGTGTCCCCCCCAGTGCAGGGAACCGTGATAAGCCTTTCTGGTTTCGGAGCACG
---------+---------+---------+---------+---------+---------+
TTTGTGACACAGGGGGGGTCACGTCCCTTGGCACTATTCGGAAAGACCAAAGCCTCGTGC
TAAATGCGTCCCTGTACAGATAGTGGGGATTTTTTGTTATGTTTGCACTTTGTATATTGG
---------+---------+---------+---------+---------+---------+
ATTTACGCAGGGACATGTCTATCACCCCTAAAAAACAATACAAACGTGAAACATATAACC
TA length polymorphism (10/8/7)
..............
TTGAAACTGTTATCACTTATATATATATATACACACATATATATAAAATCTATTTATTTT
---------+---------+---------+---------+---------+---------+
AACTTTGACAATAGTGAATATATATATATATGTGTGTATATATATTTTAGATAAATAAAA
TGCAAACCCTGGTTGCTGTATTTGTTCAGTGACTATTCTCGGGGCCCTGTGTAGGGGGTT
---------+---------+---------+---------+---------+---------+
ACGTTTGGGACCAACGACATAAACAAGTCACTGATAAGAGCCCCGGGACACATCCCCCAA
ATTGCCTCTGAAATGCCTCTTCTTTATGTACAAAGATTATTTGCACGAACTGGACTGTGT
---------+---------+---------+---------+---------+---------+
TAACGGAGACTTTACGGAGAAGAAATACATGTTTCTAATAAACGTGCTTGACCTGACACA
GCAACGCTTTTTGGGAGAATGATGTCCCCGTTGTATGTATGAGTGGCTTCTGGGAGATGG
---------+---------+---------+---------+---------+---------+
CGTTGCGAAAAACCCTCTTACTACAGGGGCAACATACATACTCACCGAAGACCCTCTACC
GTGTCACTTTTTAAACCACTGTATAGAAGGTTTTTGTAGCCTGAATGTCTTACTGTGATC
---------+---------+---------+---------+---------+---------+
CACAGTGAAAAATTTGGTGACATATCTTCCAAAAACATCGGACTTACAGAATGACACTAG
PstI and ApaLI polymorphisms 3' of LDLR gene
AATTAAATTTCTTAAATG
---------+--------
TTAATTTAAAGAATTTAC