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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Thr290Asn

Gap junction alpha-1 protein
Gene: GJA1
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Variant information Variant position: help 290 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 Threonine (T) to Asparagine (N) at position 290 (T290N, p.Thr290Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. 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

Variant description: help In congenital heart malformations. Any additional useful information about the variant.


Sequence information Variant position: help 290 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 GCSSPTAPLSPMSPPGYKLV T GDRNNSSCRNYNKQASEQNW 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                         GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

                              GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Mouse                         GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Rat                           GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Pig                           GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Bovine                        GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Rabbit                        GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Chicken                       GCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNW

Xenopus laevis                GCSSPTA---PMSPPGYKLVTGERNPSSCRNYNKQASEQNW

Zebrafish                     GCSSPTAPLSPMSPPGYKLATGERTN-SCRNYNKQANEQNW

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
Modified residue 271 – 271 S-nitrosocysteine
Modified residue 275 – 275 Phosphothreonine
Modified residue 306 – 306 Phosphoserine



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.