UniProtKB/Swiss-Prot P16157: Variant p.Val1546Ile

Ankyrin-1
Gene: ANK1
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Variant information Variant position:

1546 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 Isoleucine (I) at position 1546 (V1546I, p.Val1546Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs1060130 [ dbSNP | Ensembl ]

Sequence information Variant position:

1546 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:

SLGCALSSPLRADQYWNEVA V LDAIPLAATEHDTMLEMSDM 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                         SLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDM

Mouse                         SLQYALPSPLCADQYWNEVTVIDAIPLAATEHDTMLEMSDM

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
Region	1383 – 1881	55 kDa regulatory domain
Modified residue	1533 – 1533	Phosphoserine
Alternative sequence	1 – 1725	Missing. In isoform Mu17, isoform Mu18, isoform Mu19, isoform Mu20, isoform 22 and isoform 23.
Alternative sequence	1513 – 1874	Missing. In isoform Er16.
Alternative sequence	1514 – 1675	Missing. In isoform Er2, isoform Er4, isoform Er6, isoform Er8, isoform Er10, isoform Er12 and isoform Er14.

Literature citations
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;

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.