UniProtKB/Swiss-Prot P10636: Variant p.Val617Ile

Microtubule-associated protein tau
Gene: MAPT
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Variant information Variant position:

617 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 617 (V617I, p.Val617Ile). 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 rs116733906 [ dbSNP | Ensembl ]

Sequence information Variant position:

617 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

758 The length of the canonical sequence.
Location on the sequence:

KKLDLSNVQSKCGSKDNIKH V PGGGSVQIVYKPVDLSKVTS 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                         KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Gorilla                       KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Rhesus macaque                KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Chimpanzee                    KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Mouse                         KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Rat                           KKLDLSNVQSKCGSKDNIKHVPGGGSVHIVYKPVDLSKVTS

Bovine                        KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

Goat                          KKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTS

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	2 – 758	Microtubule-associated protein tau
Repeat	592 – 622	Tau/MAP 2
Region	561 – 685	Microtubule-binding domain
Site	607 – 607	Not glycated
Site	611 – 611	Not glycated
Site	615 – 615	Not glycated
Site	628 – 628	Not glycated
Site	634 – 634	Not glycated
Modified residue	598 – 598	N6-acetyllysine; alternate
Modified residue	602 – 602	Phosphoserine; by PHK
Modified residue	607 – 607	N6-acetyllysine
Modified residue	610 – 610	Phosphoserine
Modified residue	615 – 615	N6-acetyllysine; alternate
Modified residue	622 – 622	Phosphoserine; by PHK
Modified residue	628 – 628	N6,N6-dimethyllysine; alternate
Modified residue	628 – 628	N6-acetyllysine; alternate
Modified residue	634 – 634	N6-acetyllysine; alternate
Glycosylation	597 – 597	N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
Glycosylation	598 – 598	N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
Disulfide bond	608 – 639
Cross	598 – 598	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross	615 – 615	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross	628 – 628	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
Cross	634 – 634	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Alternative sequence	592 – 622	Missing. In isoform Tau-A, isoform Tau-B, isoform Tau-C and isoform Fetal-tau.

Literature citations
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro R.J.; Washecka N.; Hardy J.; Singleton A.;
Hum. Mutat. 31:E1126-E1140(2010)
Cited for: VARIANTS MET-17; ALA-30 AND ILE-617;

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.