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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10636: Variant p.Arg5His

Microtubule-associated protein tau
Gene: MAPT
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Variant information Variant position: help 5 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Histidine (H) at position 5 (R5H, p.Arg5His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In FTD; reduces the ability of tau to promote microtubule assembly and promotes fibril formation in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 5 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 758 The length of the canonical sequence.
Location on the sequence: help MAEP R QEFEVMEDHAGTYGLGDRKD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         MAEPRQEFEVMEDHAGTYGLGDRKD

Gorilla                       MAEPRQEFEVMEDHAGTYGLGDRKD

Rhesus macaque                MAEPRQEFDVMEDHAGTYGLGDRKD

Chimpanzee                    MAEPRQEFEVMEDHAGTYGLGDRKD

Mouse                         MADPRQEFDTMEDHA----------

Rat                           MAEPRQEFDTMEDQA----------

Bovine                        MAEPRQEFDVMEDHA----------

Goat                          MAEPRQEFDVMEDHA----------
Sequence annotation in neighborhood: help 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
Initiator methionine 1 – 1 Removed
Chain 2 – 758 Microtubule-associated protein tau
Region 1 – 573 Disordered
Compositional bias 1 – 20 Basic and acidic residues
Site 24 – 24 Not glycated
Modified residue 2 – 2 N-acetylalanine
Modified residue 18 – 18 Phosphotyrosine; by FYN
Alternative sequence 1 – 44 MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLK -> MLRALQQRKR. In isoform Tau-A.



Literature citations
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
Hayashi S.; Toyoshima Y.; Hasegawa M.; Umeda Y.; Wakabayashi K.; Tokiguchi S.; Iwatsubo T.; Takahashi H.;
Ann. Neurol. 51:525-530(2002)
Cited for: VARIANT FTD HIS-5; CHARACTERIZATION OF VARIANT FTD HIS-5;
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.