UniProtKB/Swiss-Prot P17302: Variant p.Thr154Ala

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

Variant position:  154
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 Threonine (T) to Alanine (A) at position 154 (T154A, p.Thr154Ala).
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 medium size and polar (T) to small size and hydrophobic (A)
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 ODDD.
Any additional useful information about the variant.



Sequence information

Variant position:  154
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:   KFKYGIEEHGKVKMRGGLLR  T YIISILFKSIFEVAFLLIQW
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                         KFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQW

Mouse                         KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Rat                           KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Pig                           KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Bovine                        KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Rabbit                        KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Dog                           KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Chicken                       KFKYGIEEHGKVKMRGGLLRTYIISILFKSVFEVAFLLIQW

Xenopus laevis                KFKYGLEEHGKVKMRGGLLRTYIISILFKSVFEVGFIIIQW

Zebrafish                     KFKHGLEEHGKVKMKGSLLRTYIFSIIFKSICEVVFLVIQW

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

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
van Es R.J.J.; Wittebol-Post D.; Beemer F.A.;
Int. J. Oral Maxillofac. Surg. 36:858-860(2007)
Cited for: VARIANT ODDD ALA-154;

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas W.A.; Karczeski B.; Vermeer S.; Lowry R.B.; Delatycki M.; Laurence F.; Koivisto P.A.; Van Maldergem L.; Boyadjiev S.A.; Bodurtha J.N.; Jabs E.W.;
Hum. Mutat. 30:724-733(2009)
Cited for: VARIANTS ODDD VAL-7; VAL-40; PRO-49; GLN-49 INS; ALA-96; PRO-106; ALA-154; PHE-201 AND HIS-202;

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.