UniProtKB/Swiss-Prot P17302: Variant p.Lys134Asn

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

Variant position:  134
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 Lysine (K) to Asparagine (N) at position 134 (K134N, p.Lys134Asn).
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 large size and basic (K) to medium size and polar (N)
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

Involvement in disease:  Oculodentodigital dysplasia (ODDD) [MIM:164200]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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



Sequence information

Variant position:  134
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:   KVAQTDGVNVDMHLKQIEIK  K FKYGIEEHGKVKMRGGLLRT
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                         KVA-QTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRT

Mouse                         KVA-QTDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Rat                           KVA-QTDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Pig                           KVA-QTDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Bovine                        KVVAQTDGANVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Rabbit                        KVA-QTDGVNVEMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Dog                           KVA-QTDGANVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLR

Chicken                       KVV-QNDGVNVDMHLKQIESKKFKYGIEEHGKVKMRGGLLR

Xenopus laevis                KMV-QNEGGNVDMHLKQIEIKKFKYGLEEHGKVKMRGGLLR

Zebrafish                     KAV-QNDGGDVELHLKKIELKKFKHGLEEHGKVKMKGSLLR

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

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.