UniProtKB/Swiss-Prot P10636: Variant p.Tyr441His

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

441 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 Tyrosine (Y) to Histidine (H) at position 441 (Y441H, p.Tyr441His). 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 aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs2258689 [ dbSNP | Ensembl ]

Sequence information Variant position:

441 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:

DPLIQPSSPAVCPEPPSSPK Y VSSVTSRTGSSGAKEMKLKG 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                         DPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKG

Gorilla                       DPLIQPSSPAVCPEPPSSPKYVSSVTPRTGSSGAKEMKLKG

Rhesus macaque                ---------------------------------------KG

Chimpanzee                    DPLIQPSSPAVCPEPPSSPKYVSSVTPRTGSSGAKEMKLKG

Mouse                         DPLIKPSSPAVSPEPATSPKHVSSVTPRNGSPGTKQMKLKG

Rat                           DPLIKPSSPAVCPEPATSPKYVSSVTPRNGSPGTKQMKLKG

Bovine                        ---------------------------------------KG

Goat                          ---------------------------------------KG

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
Region	1 – 573	Disordered
Compositional bias	439 – 453	Polar residues
Alternative sequence	395 – 460	Missing. In isoform Tau-A, isoform Tau-B, isoform Tau-C, isoform Tau-D, isoform Tau-E, isoform Tau-F and isoform Fetal-tau.

Literature citations
Structure and novel exons of the human tau gene.
Andreadis A.; Brown W.M.; Kosik K.S.;
Biochemistry 31:10626-10633(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS PNS-TAU; FETAL-TAU AND TAU-F); ALTERNATIVE SPLICING; VARIANT HIS-441; The role of tau (MAPT) in frontotemporal dementia and related tauopathies.
Rademakers R.; Cruts M.; van Broeckhoven C.;
Hum. Mutat. 24:277-295(2004)
Cited for: IDENTIFICATION (ISOFORM TAU-G); VARIANT HIS-441; Tau is a candidate gene for chromosome 17 frontotemporal dementia.
Poorkaj P.; Bird T.D.; Wijsman E.; Nemens E.; Garruto R.M.; Anderson L.; Andreadis A.; Wiederholt W.C.; Raskind M.; Schellenberg G.D.;
Ann. Neurol. 43:815-825(1998)
Cited for: VARIANT FTD MET-654; VARIANTS ASN-285; ALA-289; HIS-441 AND PRO-447; INVOLVEMENT IN FTD;

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.