UniProtKB/Swiss-Prot P10636: Variant p.Thr30Ala

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

30 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 Threonine (T) to Alanine (A) at position 30 (T30A, p.Thr30Ala). 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 medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs748728879 [ dbSNP | Ensembl ]

Sequence information Variant position:

30 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:

VMEDHAGTYGLGDRKDQGGY T MHQDQEGDTDAGLKESPLQT 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                         VMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQT

Gorilla                       VMEDHAGTYGLGDRKDQGGYTMLQDQEGDTDAGLKESPLQT

Rhesus macaque                VMEDHAGTYGLGDRKDQEGYTMLQDQEGDTDAGLKESPLQT

Chimpanzee                    VMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQT

Mouse                         TMEDHA-----------GDYTLLQDQEGDMDHGLKESPPQP

Rat                           TMEDQA-----------GDYTMLQDQEGDMDHGLKESPPQP

Bovine                        VMEDHA----------QGDYT-LQDQEGDMDPGLKESPLQT

Goat                          VMEDHA----------QGDYT-LQDHEGDMEPGLKESPLQT

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	27 – 41	Basic and acidic residues
Site	24 – 24	Not glycated
Site	44 – 44	Not glycated
Modified residue	18 – 18	Phosphotyrosine; by FYN
Modified residue	29 – 29	Phosphotyrosine
Modified residue	46 – 46	Phosphoserine
Cross	44 – 44	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence	1 – 44	MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLK -> MLRALQQRKR. In isoform Tau-A.

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.