UniProtKB/Swiss-Prot P17302: Variant p.Gly138Arg

Gap junction alpha-1 protein
Gene: GJA1
Chromosomal location: 6q21-q23.2
Variant information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Arginine (R) at position 138 (G138R, p.Gly138Arg).
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 large size and basic (R)
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

Variant description:  In ODDD.
Any additional useful information about the variant.



Sequence information

Variant position:  138
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:   TDGVNVDMHLKQIEIKKFKY  G IEEHGKVKMRGGLLRTYIIS
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                         TDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Mouse                         TDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Rat                           TDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Pig                           TDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Bovine                        TDGANVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Rabbit                        TDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Dog                           TDGANVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIIS

Chicken                       NDGVNVDMHLKQIESKKFKYGIEEHGKVKMRGGLLRTYIIS

Xenopus laevis                NEGGNVDMHLKQIEIKKFKYGLEEHGKVKMRGGLLRTYIIS

Zebrafish                     NDGGDVELHLKKIELKKFKHGLEEHGKVKMKGSLLRTYIFS

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 100 – 154 Cytoplasmic
Disulfide bond 54 – 192
Cross 144 – 144 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)


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;

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.