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UniProtKB/Swiss-Prot P20807: Variant p.Arg748Gln

Calpain-3
Gene: CAPN3
Variant information

Variant position:  748
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 Arginine (R) to Glutamine (Q) at position 748 (R748Q, p.Arg748Gln).
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 large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  748
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:   QKIFKHYDTDQSGTINSYEM  R NAVNDAGFHLNNQLYDIITM
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                         QKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITM

Mouse                         QKIFKHYDTDHSGTINSYEMRNAVNDAGFHLNSQLYDIITM

Rat                           QKIFKHYDTDHSGTINSYEMRNAVNDAGFHLNSQLYDIITM

Pig                           QKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITM

Bovine                        QKIFKHYDTDQSGTINSYEMRNAVKDAGFHLNNQLYDIITM

Sheep                         QKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITM

Chicken                       QKIFKHYDADHSGTINSYEMRNAVKDAGFRLNNQLYDIITM

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 722 – 757 EF-hand 3
Region 650 – 821 Domain IV
Helix 744 – 753


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;

Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain).
Urtasun M.; Saenz A.; Roudaut C.; Poza J.J.; Urtizberea J.A.; Cobo A.-M.; Richard I.; Garcia Bragado F.; Leturcq F.; Kaplan J.-C.; Marti Masso J.F.; Beckmann J.S.; Lopez de Munain A.;
Brain 121:1735-1747(1998)
Cited for: VARIANTS LGMDR1 ARG-222; GLU-486; TRP-489 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;

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Fadaee M.; Kariminejad A.; Fattahi Z.; Nafissi S.; Godarzi H.R.; Beheshtian M.; Vazehan R.; Akbari M.R.; Kahrizi K.; Najmabadi H.;
Neuromuscul. Disord. 26:277-282(2016)
Cited for: VARIANTS LGMDR1 266-ILE-ASP-267 DEL 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.