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Date Submitted:
Date for Public Release:
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Previously Published Reference:

Sequence Change

A: Single base
Base Number:
Base Change:
Amino Acid Change:

B: Small deletion/duplication
Exon containing del/dup:
Intron containing del/dup:
Starting Base Number:
Sequence of del/dup:

C: Large deletion/duplication

Exon:	Pro	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17	18
Copy Number:

Size of Deletion (Kb):
Enzyme used for Southern Blot:
Other:

Predicted Consequences

Creates a nonsense mutation - premature truncation
Frame shift causes premature truncation
Missense (amino acid substitution)
Destroys a splice site - altered RNA splicing
Create a possibly cryptic splice site
Apparently silent

Location of mutation

Exon
Splice donor/acceptor - conserved sequence
Splicing region - outside consensus sequence
Intron
5' non-coding region
3' untranslated region (3'UTR)
Signal peptide

Predicted class of mutation

Null alleles
Fails to be transported out of ER
Fails to be transported
Ligand binding defective alleles
Internalization defective alleles
Recycling defective alleles

Amino acid conserved across species

Species:

Identification and Validation of the Base Change/Small Dup/Del

Detection Method

SSCP
DGGE
Direct Sequencing

Other:

Sequence Change Determined

One strand
Both strands

Direct Assay By

Restriction Enzyme
ARMS
ASO
PCR-forced restriction site

Other:

How many independent probands carrying this mutation have been identified in your lab?

Expression in vitro LDL-R assay

Not Done
Low Binding
Low Numbers on Cell

mRNA Levels

Not Done
Levels Low
Levels Normal
Northern Blot
PCR

Other:

mRNA Size

Not Done
Levels Low
Levels Normal
Northern Blot
PCR

Other:

Regional and Genetic Data

Origin of Patients:
Frequency in Region:

Haplotype of the Chromosome

Indicate any polymorphisms present in the sample.

5’ of the LDLR D19S391 (?)n	A: Allele size: Repeat B: Allele size: Repeat
5’ of the LDLR D19S394 (GAAG)n	A: Allele size: Repeat B: Allele size: Repeat
5’ flanking region BsmI	`++` `+-` `--` Unknown
5’ flanking region RsaI	`++` `+-` `--` Unknown
Exon 2 SfnaI C>T	`++` `+-` `--` Unknown
Intron 3 ApaLI	`++` `+-` `--` Unknown
Exon 4 MaeIII G>T	`++` `+-` `--` Unknown
Intron 4 TaqI	`++` `+-` `--` Unknown
Intron 6 SphI	`++` `+-` `--` Unknown
Exon 7 artificial CfoI C>T	`CC` `CT` `TT` Unknown
Intron 7 SmaI G>C	`++` `+-` `--` Unknown
Exon 8 StuI A>G	`++` `+-` `--` Unknown
Intron 9 HhaI C>T	`++` `+-` `--` Unknown
Exon 10 G>A	`GG` `GA` `AA` Unknown
Exon 11 artificial StuI C>T	`CC` `CT` `TT` Unknown
Exon 12 HincII T>C	`++` `+-` `--` Unknown
Exon 12 C>T	`CC` `CT` `TT` Unknown
Intron 12 BstEII	`++` `+-` `--` Unknown
Exon 13 AvaII C>T	`++` `+-` `--` Unknown
Exon 14 C>A	`CC` `CA` `AA` Unknown
Exon 15 MspI G>A	`++` `+-` `--` Unknown
Intron 15 SpeI	`++` `+-` `--` Unknown
Intron 15 ApaLI	`++` `+-` `--` Unknown
Intron 15 PvuII A>G	`++` `+-` `--` Unknown
Exon 18 MspI G>A	`++` `+-` `--` Unknown
Exon 18 Nco	`++` `+-` `--` Unknown
Exon 18 HVR-TA (TA)n	A: Allele size: Repeat B: Allele size: Repeat
3’flanking region ApaLI	`++` `+-` `--` Unknown
3’flanking region AflIII	`++` `+-` `--` Unknown
3’flanking region ApaLI	`++` `+-` `--` Unknown
3’flanking region PstI	`++` `+-` `--` Unknown
3’ to the LDLR D19S221 (CA)n	A: Allele size: Repeat B: Allele size: Repeat
3’ to the LDLR D19S179 (?)n	A: Allele size: Repeat B: Allele size: Repeat

Size of Deletion (Kb):
Enzyme used for Southern Blot:
Other:

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Contact Information

Sequence Change

A: Single base

B: Small deletion/duplication

C: Large deletion/duplication