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UniProtKB/Swiss-Prot P17302: Variant p.Gly143Ser

Gap junction alpha-1 protein
Gene: GJA1
Variant information

Variant position:  143
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 Glycine (G) to Serine (S) at position 143 (G143S, p.Gly143Ser).
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 glycine (G) to small size and polar (S)
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 SDTY3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  143
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  382
The length of the canonical sequence.

Location on the sequence:   VDMHLKQIEIKKFKYGIEEH  G KVKMRGGLLRTYIISILFKS
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                         VDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

                              VDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Mouse                         VEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Rat                           VEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Pig                           VEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Bovine                        VDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Rabbit                        VEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Chicken                       VDMHLKQIESKKFKYGIEEHGKVKMRGGLLRTYIISILFKS

Xenopus laevis                VDMHLKQIEIKKFKYGLEEHGKVKMRGGLLRTYIISILFKS

Zebrafish                     VELHLKKIELKKFKHGLEEHGKVKMKGSLLRTYIFSIIFKS

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 2 – 382 Gap junction alpha-1 protein
Topological domain 98 – 155 Cytoplasmic
Disulfide bond 54 – 192
Cross 144 – 144 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)


Literature citations

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R.R.; Donnai D.; Meire F.; Dixon M.J.;
J. Med. Genet. 41:60-67(2004)
Cited for: VARIANTS ODDD PRO-27; MET-31; VAL-40; TYR-69; PRO-113; ASN-134; GLN-148 AND HIS-202; VARIANT SDTY3 SER-143;

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.