UniProtKB/Swiss-Prot P10636: Variant p.Lys634Met

Microtubule-associated protein tau
Gene: MAPT
Chromosomal location: 17q21.1
Variant information

Variant position:  634
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

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.



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.

TypePositionsDescription
Chain 2 – 758 Microtubule-associated protein tau
Repeat 623 – 653 Tau/MAP 3
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 622 – 622 Phosphoserine; by MARK1; in PHF-tau
Modified residue 641 – 641 Phosphoserine; by MARK1; in PHF-tau
Disulfide bond 608 – 639
Cross 628 – 628 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau


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;

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.