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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Ala253Pro

Gap junction alpha-1 protein
Gene: GJA1
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Variant information Variant position: help 253 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 Alanine (A) to Proline (P) at position 253 (A253P, p.Ala253Pro). 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 hydrophobic (A) to medium size and hydrophobic (P) 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 congenital heart malformations. Any additional useful information about the variant.


Sequence information Variant position: help 253 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 FKGVKDRVKGKSDPYHATSG A LSPAKDCGSQKYAYFNGCSS 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                         FKGVKDRVKGKSDPYHATSGALSPA-KDCGSQKYAYFNGCSS

                              FKGVKDRVKGQSDPYHATTGPLSPS-KDCGSPEYAYFNGCS

Mouse                         FKGVKDRVKGRSDPYHATTGPLSPS-KDCGSPKYAYFNGCS

Rat                           FKGVKDRVKGRSDPYHATTGPLSPS-KDCGSPKYAYFNGCS

Pig                           FKGVKDRVKGKSDPYHATTGPLSPS-KDCGSPKYAYFNGCS

Bovine                        FKGVKDRVKGKSDPYHTTTGPLSPS-KDCGSPKYAYFNGCS

Rabbit                        FKGVKDRVKGKSDPYHATTGPLSPS-KDCGSPKYAYFNGCS

Chicken                       FKGVKDRVKGKTDPY-SHSGTMSPS-KDCGSPKYAYYNGCS

Xenopus laevis                YKSIKDGIKGKKDPFSATNDAVISG-KECGSPKYAYFNGCS

Zebrafish                     FKRIKDRVKSRQNT-QFPTGTLSPTPKELSTTKYAYYNGCS

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
Modified residue 247 – 247 Phosphotyrosine
Modified residue 255 – 255 Phosphoserine
Modified residue 262 – 262 Phosphoserine
Modified residue 271 – 271 S-nitrosocysteine
Cross 237 – 237 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Helix 246 – 253



Literature citations
Mutations of connexin43 in fetuses with congenital heart malformations.
Chen P.; Xie L.-J.; Huang G.-Y.; Zhao X.-Q.; Chang C.;
Chin. Med. J. 118:971-976(2005)
Cited for: VARIANTS CONGENITAL HEART MALFORMATIONS TRP-239; THR-251; PRO-253; LEU-283 AND ASN-290;
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.