UniProtKB/Swiss-Prot P16157: Variant p.Thr1075Ile

Ankyrin-1
Gene: ANK1
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Variant information Variant position:

1075 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 Threonine (T) to Isoleucine (I) at position 1075 (T1075I, p.Thr1075Ile). 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 polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs35213384 [ dbSNP | Ensembl ]

Sequence information Variant position:

1075 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:

ITTDFPLYFVIMSRLCQDYD T IGPEGGSLKSKLVPLVQATF 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                         ITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATF

Mouse                         ITTDFPLYFVIMSRLCQDYDTIGPEGGSLRSKLVPLVQATF

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.

Type	Positions	Description
Chain	1 – 1881	Ankyrin-1
Domain	1070 – 1216	ZU5 2
Modified residue	1073 – 1073	Phosphotyrosine
Modified residue	1082 – 1082	Phosphoserine
Alternative sequence	1 – 1725	Missing. In isoform Mu17, isoform Mu18, isoform Mu19, isoform Mu20, isoform 22 and isoform 23.
Beta strand	1074 – 1076

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; cDNA sequence for human erythrocyte ankyrin.
Lambert S.; Yu H.; Prchal J.T.; Lawler J.; Ruff P.; Speicher D.; Cheung M.C.; Kan Y.W.; Palek J.;
Proc. Natl. Acad. Sci. U.S.A. 87:1730-1734(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ER1; ER5 AND ER16); VARIANTS ILE-1075 AND ILE-1546; Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing.
Gallagher P.G.; Tse W.T.; Scarpa A.L.; Lux S.E.; Forget B.G.;
J. Biol. Chem. 272:19220-19228(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANTS LEU-991 AND ILE-1075; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BR21); VARIANT 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.