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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Gly2Val

Gap junction alpha-1 protein
Gene: GJA1
Variant information Variant position: help 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Valine (V) at position 2 (G2V, p.Gly2Val). 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: help Change from glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In ODDD. Any additional useful information about the variant.

Sequence information Variant position: help 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 382 The length of the canonical sequence.
Location on the sequence: help M G DWSALGKLLDKVQAYSTAGG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         MGDWSALGKLLDKVQAYSTAGG


Mouse                         MGDWSALGKLLDKVQAYSTAGG

Rat                           MGDWSALGKLLDKVQAYSTAGG

Pig                           MGDWSALGKLLDKVQAYSTAGG

Bovine                        MGDWSALGKLLDKVQAYSTAGG

Rabbit                        MGDWSALGKLLDKVQAYSTAGG

Chicken                       MGDWSALGKLLDKVQAYSTAGG

Xenopus laevis                MGDWSALGRLLDKVQAYSTAGG

Zebrafish                     MGDWSALGRLLDKVQAYSTAGG

Sequence annotation in neighborhood: help 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.
Initiator methionine 1 – 1 Removed
Chain 2 – 382 Gap junction alpha-1 protein
Topological domain 2 – 23 Cytoplasmic
Modified residue 5 – 5 Phosphoserine

Literature citations
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas W.A.; Boyadjiev S.A.; Shapiro R.E.; Daniels O.; Wollnik B.; Keegan C.E.; Innis J.W.; Dinulos M.B.; Christian C.; Hannibal M.C.; Jabs E.W.;
Am. J. Hum. Genet. 72:408-418(2003)
Cited for: NON-ASSOCIATION WITH NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS; VARIANTS ODDD SER-17; PRO-18; ARG-21; GLU-22; THR-23; VAL-40; LYS-49; PHE-52 INS; SER-76; VAL-90; CYS-98; ASN-102; THR-130; GLU-134; ARG-138; HIS-202 AND LEU-216; VARIANT VAL-253; A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
de la Parra D.R.; Zenteno J.C.;
Ophthalmic Genet. 28:198-202(2007)
Cited for: VARIANT ODDD VAL-2;
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.