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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Gly8Val

Gap junction alpha-1 protein
Gene: GJA1
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Variant information Variant position: help 8 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 8 (G8V, p.Gly8Val). 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 PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 8 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 MGDWSAL G KLLDKVQAYSTAGGKVWLSV 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                         MGDWSALGKLLDKVQAYSTAGGKVWLSV

                              MGGWSALAKLLGKVQAYSPAGGKVWLSV

Mouse                         MGDWSALGKLLDKVQAYSTAGGKVWLSV

Rat                           MGDWSALGKLLDKVQAYSTAGGKVWLSV

Pig                           MGDWSALGKLLDKVQAYSTAGGKVWLSV

Bovine                        MGDWSALGKLLDKVQAYSTAGGKVWLSV

Rabbit                        MGDWSALGKLLDKVQAYSTAGGKVWLSV

Chicken                       MGDWSALGKLLDKVQAYSTAGGKVWLSV

Xenopus laevis                MGDWSALGRLLDKVQAYSTAGGKVWLSV

Zebrafish                     MGDWSALGRLLDKVQAYSTAGGKVWLSV
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.
TypePositionsDescription
Initiator methionine 1 – 1 Removed
Chain 2 – 382 Gap junction alpha-1 protein
Topological domain 2 – 23 Cytoplasmic
Modified residue 5 – 5 Phosphoserine
Helix 4 – 15



Literature citations
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H.; Cao X.; Lin Z.; Lee M.; Jia X.; Ren Y.; Dai L.; Guan L.; Zhang J.; Lin X.; Zhang J.; Chen Q.; Feng C.; Zhou E.Y.; Yin J.; Xu G.; Yang Y.;
Hum. Mol. Genet. 24:243-250(2015)
Cited for: INVOLVEMENT IN PPKCA1; VARIANT PPKCA1 VAL-8; CHARACTERIZATION OF VARIANT PPKCA1 VAL-8;
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.