UniProtKB/SwissProt variant VAR

Variant information

Variant position:

634

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

Type of variant:

LP/P [Disclaimer]

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 Lysine (K) to Methionine (M) at position 634 (K634M, p.Lys634Met).

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 large size and basic (K) to medium size and hydrophobic (M)

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

Variant description:

In FTD.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs63750092 [ dbSNP | Ensembl ]

Sequence information

Variant position:

634

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:

IKHVPGGGSVQIVYKPVDLS K VTSKCGSLGNIHHKPGGGQV

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                         IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Gorilla                       IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Rhesus macaque                IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Chimpanzee                    IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Mouse                         IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Rat                           IKHVPGGGSVHIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Bovine                        IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

Goat                          IKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQV

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	623 – 653	Tau/MAP 3
Region	561 – 685	Microtubule-binding domain
Site	615 – 615	Not glycated
Site	628 – 628	Not glycated
Site	634 – 634	Not glycated
Site	638 – 638	Not glycated
Site	648 – 648	Not glycated
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
Modified residue	638 – 638	N6-acetyllysine; alternate
Modified residue	641 – 641	Phosphoserine
Modified residue	648 – 648	N6-acetyllysine; alternate
Disulfide bond	608 – 639
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
Cross	638 – 638	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross	648 – 648	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Beta strand	634 – 640

Literature citations

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Zarranz J.J.; Ferrer I.; Lezcano E.; Forcadas M.I.; Eizaguirre B.; Atares B.; Puig B.; Gomez-Esteban J.C.; Fernandez-Maiztegui C.; Rouco I.; Perez-Concha T.; Fernandez M.; Rodriguez O.; Rodriguez-Martinez A.B.; de Pancorbo M.M.; Pastor P.; Perez-Tur J.;
Neurology 64:1578-1585(2005)
Cited for: VARIANT FTD MET-634;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10636: Variant p.Lys634Met