Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Ser365Asn

Gap junction alpha-1 protein
Gene: GJA1
Feedback?
Variant information Variant position: help 365 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Serine (S) to Asparagine (N) at position 365 (S365N, p.Ser365Asn). 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 small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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: help In heart malformations. Any additional useful information about the variant.


Sequence information Variant position: help 365 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 KKLAAGHELQPLAIVDQRPS S RASSRASSRPRPDDLEI 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                         KKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

                              KKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Mouse                         KKVAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Rat                           KKVAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Pig                           KKLDAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Bovine                        KKLDAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Rabbit                        KKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI

Chicken                       KKLASGHELQPLTIVDQRPPSRASSRASSRPRPDDLEI

Xenopus laevis                KKMAPGHEMQPLTILDQRPSSRASSHASSRPRPDDLEI

Zebrafish                     KKLTPGHELQPLALIDARPCSRASSRMSSRARPDDLDV

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
Modified residue 365 – 365 Phosphoserine
Modified residue 368 – 368 Phosphoserine; by PKC/PRKCG and PKC/PRKCD
Modified residue 369 – 369 Phosphoserine
Modified residue 373 – 373 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.