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UniProtKB/Swiss-Prot P16157: Variant p.Val750Ala

Ankyrin-1
Gene: ANK1
Variant information

Variant position:  750
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Alanine (A) at position 750 (V750A, p.Val750Ala).
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 hydrophobic (V) 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



Sequence information

Variant position:  750
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1881
The length of the canonical sequence.

Location on the sequence:   KTKLGYSPLHQAAQQGHTDI  V TLLLKNGASPNEVSSDGTTP
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                         KTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTP

Mouse                         KTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSNGTTP

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 1 – 1881 Ankyrin-1
Repeat 733 – 762 ANK 22
Region 1 – 827 89 kDa domain
Modified residue 759 – 759 Phosphoserine
Modified residue 761 – 761 (3S)-3-hydroxyasparagine; by HIF1AN; partial
Alternative sequence 1 – 1725 Missing. In isoform Mu17, isoform Mu18, isoform Mu19, isoform Mu20, isoform 22 and isoform 23.
Helix 747 – 755


Literature citations

Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins.
Lux S.E.; John K.M.; Bennett V.;
Nature 344:36-42(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ER1 AND ER2); PROTEIN SEQUENCE OF 3-30; 733-753; 828-871; 959-1003; 1106-1128; 1149-1168; 1282-1288; 1345-1367; 1383-1427; 1601-1626; 1686-1700 AND 1763-1772; VARIANTS ALA-750 AND ILE-1075;

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.