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UniProtKB/Swiss-Prot P17655: Variant p.Asp22Glu

Calpain-2 catalytic subunit
Gene: CAPN2
Variant information

Variant position:  22
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Aspartate (D) to Glutamate (E) at position 22 (D22E, p.Asp22Glu).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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

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



Sequence information

Variant position:  22
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  700
The length of the canonical sequence.

Location on the sequence:   AGIAAKLAKDREAAEGLGSH  D RAIKYLNQDYEALRNECLEA
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                         AGIAAKLAKDREAAEGLGSHDRAIKYLNQDYEALRNECLEA

Mouse                         AGIAIKLAKDREAAEGLGSHERAIKYLNQDYETLRNECLEA

Rat                           AGIAMKLAKDREAAEGLGSHERAIKYLNQDYETLRNECLEA

Bovine                        AGIAAKLAKDREAAEGLGSHERAVKYLNQDYAALRDECLEA

Chicken                       AGMAAALAKERAAAAGAGRHGQAVPYLGQDFGALRRECLQG

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 20 – 700 Calpain-2 catalytic subunit
Modified residue 2 – 2 N-acetylalanine
Alternative sequence 1 – 78 Missing. In isoform 2.


Literature citations

Molecular cloning of the cDNA for the large subunit of the high-Ca2+-requiring form of human Ca2+-activated neutral protease.
Imajoh S.; Aoki K.; Ohno S.; Emori Y.; Kawasaki H.; Sugihara H.; Suzuki K.;
Biochemistry 27:8122-8128(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-22;

cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs.
Ye Z.; Connor J.R.;
Biochem. Biophys. Res. Commun. 275:223-227(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-22;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-22; GLY-68; ARG-476; GLN-521; GLN-568 AND GLN-677;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLU-22;

Tandemly reiterated negative enhancer-like elements regulate transcription of a human gene for the large subunit of calcium-dependent protease.
Hata A.; Ohno S.; Akita Y.; Suzuki K.;
J. Biol. Chem. 264:6404-6411(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-79; VARIANTS GLU-22 AND GLY-68;

Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-22; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.