Gene Symbol MFSD8
Gene ID 256471
Chromosomal Location 4q28.2
Genomic RefSeqGene NG_008657.1 55180 bp
Transcript RefSeq NM_152778.2 4562 bp
Protein RefSeq NP_689991.1 518 aa
No. of mutations 31
No. of sequence variations 2
No. of changes 33
Additional notes
Identifier Mutation Location Nucleotide Change Amino Acid Change Type of mutation Predicted functional effect Phenotype Histology No. of families  Country of origin Primary  Reference ID References Patients Notes
cln7.014 C: Exon 2 c.2T>C p.Met1Thr Missense Benign?? vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.037
cln7.007 D: Exon 3 c.103C>T p.Arg35X Nonsense vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.040
cln7.007 D: Exon 3 c.103C>T p.Arg35x Nonsense vLINCL 2 Turkey 19201763, 21990111 Kousi et al., Brain, 2009; Kousi et al., Hum Mutat; 2012,  Pa-cln7.008, Pa-cln7.054
cln7.007 D: Exon 3 c.103C>T p.Arg35X Nonsense vLINCL 1 Cook Islands 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.055
cln7.010 D: Exon 3 c.154G>A p.Gly52Arg Missense Possibly damaging vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.034
cln7.017 F: Exon 5 c.416G>A p.Arg139His Missense Possibly damaging vLINCL 1 India 19201763 Kousi et al., Brain, 2009 Pa-cln7.029
cln7.017 F: Exon 5 c.416G>A p.Arg139His Missense Possibly damaging vLINCL 1 Canada 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.071
cln7.020 F: Exon 5 c.259C>T p.Gln87X Nonsense vLINCL 1 Canada 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.070
cln7.022 F :Exon 5 c.334C>T p.Leu112Leu Sequence variant 3% control alleles 19177532 Aiello et al., Hum Mut; 2009
cln7.021 F: Exon 5 c.362A>G p.Tyr121Cys Missense Possibly damaging vLINCL but no visual failure reported 1 Egypt 18850119 Stogmann et al., Neurogenetics; 2009 Pa-cln7.041-043
cln7.018 G: Exon 6 c.468_469delinsCC p.Ala157Pro Delins Possibly damaging vLINCL 1 The Netherlands 19201763 Kousi et al., Brain, 2009 Pa-cln7.030
cln7.023 Exon 11 c.1089A>C p.Lys363Asn Sequence variant Benign vLINCL n.a. Italy 19177532 Aiello et al., Hum Mut; 2009 5% alleles
cln7.026 G: Exon 6 c.479C>A p.Thr160Asn Missense Possibly damaging 1 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.056
cln7.027 G: Exon 6 c.479C>T p.Thr160Ile Missense Possibly damaging vLINCL 1 Cook Islands 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.055
cln7.028 G: Intron 6 c.554-1G>C splice defect 1 Romania 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.053
cln7.025 H: Exon 7 c.588delA p.Gly197fsX1 Frameshift vLINCL 1 African-Poruguese F Laranjeira pers comm Pa-cln7.072-073
cln7.001 H: Exon 7 c.697A>G p.Arg233Gly or splice defect Missense Probably damaging vLINCL 1 Turkey 17564970,  15074367 Siintola et al., Am J Hum Genet; 2007, Topcu et al., Turk J Pediatr; 2004 Pa-cln7.001
cln7.016 H: Exon 7 c.627_643delGTATACAACACCAGTTT p.Met209IlefsX3 17-bp deletion vLINCL 1 Italy 19177532, 19201763 Aiello et al, Hum. Mutat, 2009 ; Kousi et al., Brain, 2009 Pa-cln7.032
cln7.002 I: Intron 8 c.754+2T>A splice defect vLINCL 1 Czech Republic 19201763 Kousi et al., Brain, 2009 Pa-cln7.028
cln7.002 I: Intron 8 c.754+2T>A splice defect vLINCL 1 Turkey 17564970,  15074367 Siintola et al., Am J Hum Genet; 2007, Topcu et al., Turk J Pediatr; 2004 Pa-cln7.002, Pa-cln7.003
cln7.002 I: Intron 8 c.754+2T>A splice defect vLINCL 6 Czech Republic 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.051, 052, 060-063
cln7.002 I: Intron 8 c.754+2T>A splice defect vLINCL 2 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.059, Pa-cln7.064
cln7.029 I: Intron 8 c.754+1G>A splice defect LINCL 2 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.057, 058
cln7.011 J: Intron 9 c.863+3_4insT splice defect 1-bp insertion vLINCL 3 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.033, Pa-cln7.034, Pa-cln7.037
cln7.015 J: Intron 9 c.863+1G>C splice defect vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.036
cln7.015 J: Intron 9 c.863+1G>C splice defect vLINCL 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln7.031
cln7.003 K: Exon 10 c.894T>G p.Tyr298X Nonsense vLINCL 1 India 17564970 Siintola et al., Am J Hum Genet; 2007 Pa-cln7.004
cln7.004 K: Exon 10 c.929G>A p.Gly310Asp Missense Possibly damaging vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.033
cln7.004 K: Exon 10 c.929G>A p.Gly310Asp Missense Possibly damaging vLINCL 2 Turkey 17564970,  15074367, 21990111 Siintola et al., Am J Hum Genet; 2007, Topcu et al., Turk J Pediatr; 2004, Kousi et al., Hum Mutat; 2012 Pa-cln7.005, Pa-cln7.066
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.039
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 2 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln7.009-010, Pa-cln7.011 
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 14 Roma from the former Czechoslovakia 19201763,  21990111 Kousi et al., Brain, 2009, Kousi et al., Hum Mutat; 2012 Pa-cln7.012-013, Pa-cln7.014-025, Pa-cln7-065 (vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 1 Czech Republic 19201763 Kousi et al., Brain, 2009 Pa-cln7.026
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 2 Spain 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.048, 050
cln7.022 Exon 5 c.334C>T p.Leu112Leu Sequence variant vLINCL n.a. Italy 19177532 Aiello et al., Hum Mut; 2009 3% alleles
cln7.008 K: Exon 10 c.881C>A p.Thr294Lys Missense Probably damaging vLINCL 1 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.059
cln7.023 c.1089A>G p.Lys363Lys Sequence variant 5% control alleles 19177532 Aiello et al., Hum Mut; 2009
cln7.005 L: Exon 11 c.1102G>C p.Asp368His or splice defect Missense Possibly damaging vLINCL 1 Turkey 17564970 Siintola et al., Am J Hum Genet; 2007 Pa-cln7.006
cln7.019 L: Intron 11 c.1103-2delA splice defect vLINCL 1 Czech Republic 19201763 Kousi et al., Brain, 2009 Pa-cln7.028
cln7.006 M: Exon 12 c.1286G>A p.Gly429Asp Missense Possibly damaging vLINCL 1 Turkey 17564970 Siintola et al., Am J Hum Genet; 2007 Pa-cln7.007
cln7.012 M: Exon 12 c.1141G>T p.Glu381X Nonsense vLINCL 1 Italy/France 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.035
cln7.014 M: Exon 12 c.1340C>T p.Pro447Leu Missense Possibly damaging vLINCL 1 Italy 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.038
cln7.025 Intron 2 c.63-4delC N.A.  Sequence variant 1 Poland 19201763 Kousi et al., Brain, 2009
cln7.025 Intron 2 c.63-4delC N.A. Sequence variant 1 Argentina 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.047
cln7.024 M: Exon 12 c.1235C>T p.Pro412Leu Missense Possibly damaging vLINCL 1 Saudi Arabia 19277732 Aldahmesh et al, Neurogenetics; 2009 Pa-cln7.044-046
cln7.024 M: Exon 12 c.1235C>T p.Pro412Leu Missense Possibly damaging 1 Mexico 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.067
cln7.009 N: Exon 13 c.1393C>T p.Arg465Trp Missense Possibly damaging vLINCL 1 Albania/Greece 19201763 Kousi et al., Brain, 2009 Pa-cln7.027
cln7.013 N: Exon 13 c.1444C>T p.Arg482X Nonsense vLINCL 1 Italy/France 19177532 Aiello et al., Hum Mut; 2009 Pa-cln7.035
cln7.013 N: Exon 13 c.1444C>T p.Arg482X Nonsense vLINCL 1 Argentina 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.049
cln7.030 N: Exon 13 c.1373C>A p.Thr458Lys Missense Possibly damaging 1 Romania 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.053
cln7.031 N: Exon 13 c.1408A>G p.Met470Val Missense Benign 1 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.068
cln7.032 N: Exon 13 c.1394G>A p.Arg465Gln Missense Possibly damaging 1 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.064
cln7.033 N: Exon 13 c.1420C>T p.Gln474X Nonsense 1 Turkey 21990111 Kousi et al., Hum Mutat; 2012 Pa-cln7.069
Notes
Recommended mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
See dbSNP for more short genetic variations