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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Thr326Ala

Gap junction alpha-1 protein
Gene: GJA1
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Variant information Variant position: help 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Threonine (T) to Alanine (A) at position 326 (T326A, p.Thr326Ala). 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 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: help 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



Sequence information Variant position: help 326 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 SEQNWANYSAEQNRMGQAGS T ISNSHAQPFDFPDDNQNSKK 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                         SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKK

                              SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKK

Mouse                         SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDSQNAKK

Rat                           SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNAKK

Pig                           SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKK

Bovine                        SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDHQNSKK

Rabbit                        SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKK

Chicken                       SEQNWANYSAEQNRMGQAGSTISNSHAQPFDFADEHQNTKK

Xenopus laevis                SEQNWANYSAEQNRMGQAGSTISNTHAQPFDFSDEHQNTKK

Zebrafish                     NEQNWANYSTEQNRLGQNGSTISNSHAQAFDYPDDTHEHKK

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
Chain 2 – 382 Gap junction alpha-1 protein
Topological domain 229 – 382 Cytoplasmic
Region 244 – 382 Interaction with NOV
Region 264 – 382 Interaction with UBQLN4
Region 317 – 382 Disordered
Compositional bias 317 – 340 Polar residues
Modified residue 306 – 306 Phosphoserine
Modified residue 314 – 314 Phosphoserine
Modified residue 325 – 325 Phosphoserine; by CK1
Modified residue 326 – 326 Phosphothreonine
Modified residue 328 – 328 Phosphoserine; by CK1
Modified residue 330 – 330 Phosphoserine; by CK1
Modified residue 344 – 344 Phosphoserine



Literature citations
Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality.
Britz-Cunningham S.H.; Shah M.M.; Zuppan C.W.; Fletcher W.H.;
N. Engl. J. Med. 332:1323-1329(1995)
Cited for: VARIANTS HEART MALFORMATIONS GLY-352; PRO-364 AND ASN-365; VARIANTS ALA-326 AND GLY-373; CHARACTERIZATION OF VARIANT HEART MALFORMATIONS PRO-364;
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.