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UniProtKB/Swiss-Prot P20807: Variant p.Ala702Val

Calpain-3
Gene: CAPN3
Variant information

Variant position:  702
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Valine (V) at position 702 (A702V, p.Ala702Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In LGMDR1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  702
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  821
The length of the canonical sequence.

Location on the sequence:   NKHKDLKTHGFTLESCRSMI  A LMDTDGSGKLNLQEFHHLWN
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         NKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWN

Mouse                         NKHKDLKTQGFTLESCRSMIALMDTDGSGRLNLQEFHHLWK

Rat                           NKHKDLKTQGFTLESCRSMIALMDTDGSGRLNLQEFHHLWK

Pig                           NKHKDLKTEGFTLESCRSMIALMDTDGSGRLNLQEFHHLWK

Bovine                        NKHKDLKTQGFTLESCRSMIALMDTDGSGRLNLQEFHHLWK

Sheep                         NKHKDLKTQGFTLESCRSMIALMDTDGSGRLNLQEFHHLWK

Chicken                       KKHKDLKTEGFELESSRSMIALMDTDGSGKINFDEFRHLWD

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 821 Calpain-3
Domain 692 – 725 EF-hand 2
Region 650 – 821 Domain IV
Helix 694 – 704


Literature citations

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I.; Brenguier L.; Dincer P.; Roudaut C.; Bady B.; Burgunder J.-M.; Chemaly R.; Garcia C.A.; Halaby G.; Jackson C.E.; Kurnit D.M.; Lefranc G.; Legum C.; Loiselet J.; Merlini L.; Nivelon-Chevallier A.; Ollagnon-Roman E.; Restagno G.; Topaloglu H.; Beckmann J.S.;
Am. J. Hum. Genet. 60:1128-1138(1997)
Cited for: VARIANTS LGMDR1 PHE-86; 215-SER--GLY-221 DEL; PRO-215; LEU-319; GLN-334; TRP-440; TRP-490; ARG-496; TRP-567; TRP-572; LEU-606; VAL-702 AND GLN-748;

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Dincer P.; Leturcq F.; Richard I.; Piccolo F.; Yalnizoglu D.; de Toma C.; Akcoeren Z.; Broux O.; Deburgrave N.; Brenguier L.; Roudaut C.; Urtizberea J.A.; Jung D.; Tan E.; Jeanpierre M.; Campbell K.P.; Kaplan J.-C.; Beckmann J.S.; Topaloglu H.;
Ann. Neurol. 42:222-229(1997)
Cited for: VARIANTS LGMDR1 ASN-336; GLN-490; VAL-702 AND GLN-748;

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Fattahi Z.; Kalhor Z.; Fadaee M.; Vazehan R.; Parsimehr E.; Abolhassani A.; Beheshtian M.; Zamani G.; Nafissi S.; Nilipour Y.; Akbari M.R.; Kahrizi K.; Kariminejad A.; Najmabadi H.;
Clin. Genet. 91:386-402(2017)
Cited for: VARIANTS LGMDR1 266-ILE-ASP-267 DEL; TRP-572; VAL-702 AND GLN-748;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.