UniProtKB/Swiss-Prot P27816: Variant p.Val628Ile

Microtubule-associated protein 4
Gene: MAP4
Feedback?

Variant information Variant position:

628 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 Valine (V) to Isoleucine (I) at position 628 (V628I, p.Val628Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs1137524 [ dbSNP | Ensembl ]

Sequence information Variant position:

628 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1152 The length of the canonical sequence.
Location on the sequence:

ESLQDVGQSAAPTFMISPET V TGTGKKCSLPAEEDSVLEKL 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                         ESLQDVGQSAAPTFMISPETVTGTGKKCSLPAEEDSVLEKL

Mouse                         ASMQHKGQSTVPPCTASPEPVKAAEQMSTLPIDAPSPLENL

Rat                           ESVQLEGQSAVPPCTISPEPVKAADQKSTLPVDEGSPLEKL

Bovine                        KSLQDEGQSAVP-LMTSPEAVVAMGQKHSLPTDEDSVLEEL

Fission yeast                 SSISHSSASSLP---ITPSSYLSNTTLHS------------

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 – 1152	Microtubule-associated protein 4
Modified residue	624 – 624	Phosphoserine
Modified residue	636 – 636	Phosphoserine
Modified residue	643 – 643	Phosphoserine
Alternative sequence	100 – 1152	Missing. In isoform 7.
Alternative sequence	275 – 666	AKDMESPTKLDVTLAKDMQPSMESDMALVKDMELPTEKEVALVKDVRWPTETDVSSAKNVVLPTETEVAPAKDVTLLKETERASPIKMDLAPSKDMGPPKENKKETERASPIKMDLAPSKDMGPPKENKIVPAKDLVLLSEIEVAQANDIISSTEISSAEKVALSSETEVALARDMTLPPETNVILTKDKALPLEAEVAPVKDMAQLPETEIAPAKDVAPSTVKEVGLLKDMSPLSETEMALGKDVTPPPETEVVLIKNVCLPPEMEVALTEDQVPALKTEAPLAKDGVLTLANNVTPAKDVPPLSETEATPVPIKDMEIAQTQKGISEDSHLESLQDVGQSAAPTFMISPETVTGTGKKCSLPAEEDSVLEKLGERKPCNSQPSELSSETS -> PITTAIETVNIHGDHSLKNKAELADSMKNEAGIDEGHVIGESESVHSGASKHSVEKVTELAKGHLLPGVPVEDQSLPGEARALEGYADRGNFPAHPVNEEKETKEGSVAVQIPDLLEDKAQKLSFCEDQNAQDRNSKGSDSLNKKVDLTLLSPKSENDKLKEISLACKITELESVSLPTPEIQSDFLHSKVEAPPSEVADTLVIMTASKGVRLPEPKDKILETPQKMTEKSESKTPGEGKKEDKSRMAEPMKGYMRPTKSRGLTPLLPKSTIQEQERHKQLKSA. In isoform 4.
Alternative sequence	322 – 666	WPTETDVSSAKNVVLPTETEVAPAKDVTLLKETERASPIKMDLAPSKDMGPPKENKKETERASPIKMDLAPSKDMGPPKENKIVPAKDLVLLSEIEVAQANDIISSTEISSAEKVALSSETEVALARDMTLPPETNVILTKDKALPLEAEVAPVKDMAQLPETEIAPAKDVAPSTVKEVGLLKDMSPLSETEMALGKDVTPPPETEVVLIKNVCLPPEMEVALTEDQVPALKTEAPLAKDGVLTLANNVTPAKDVPPLSETEATPVPIKDMEIAQTQKGISEDSHLESLQDVGQSAAPTFMISPETVTGTGKKCSLPAEEDSVLEKLGERKPCNSQPSELSSETS -> LPEPKDKILETPQKMTEKSESKTPGEGKKEDKSRMAEPMKGYMRPTKSRGLTPLLPKSTIQEQERHKQLKSA. In isoform 5.
Alternative sequence	441 – 631	ETEVALARDMTLPPETNVILTKDKALPLEAEVAPVKDMAQLPETEIAPAKDVAPSTVKEVGLLKDMSPLSETEMALGKDVTPPPETEVVLIKNVCLPPEMEVALTEDQVPALKTEAPLAKDGVLTLANNVTPAKDVPPLSETEATPVPIKDMEIAQTQKGISEDSHLESLQDVGQSAAPTFMISPETVTGT -> TEEAVLNQAPQQKKAVRRALSECSHLSVPPAVNLADKYPELPAREEPSSGLLPPPSSPMPSPTPGKLGAPAMKRSMTVGEEQTASYKLSPGKLPILSTKEIPPFICEEPVAKKREELAHFSNSSSNSGKKELGTAGLYLHSKLEQIPEGSSKEKGQEDFSETRIDSCSQVCQRGEKQPGQTALA. In isoform 3.
Alternative sequence	558 – 730	Missing. In isoform 2.

Literature citations
A model for microtubule-associated protein 4 structure. Domains defined by comparisons of human, mouse, and bovine sequences.
West R.R.; Tenbarge K.M.; Olmsted J.B.;
J. Biol. Chem. 266:21886-21896(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS TYR-427 AND ILE-628; A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-60; SER-99; SER-280; SER-358; SER-384; SER-507; THR-521; THR-571; SER-580; THR-585; SER-636; SER-825; SER-941 AND SER-1151; PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-28 AND SER-269 (ISOFORM 4); VARIANT [LARGE SCALE ANALYSIS] ILE-628; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2; PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-280; THR-282; THR-354; SER-358; THR-380; SER-384; SER-507; SER-510; THR-521; THR-526; THR-571; THR-585; SER-624; SER-636; SER-787; SER-797; SER-825; SER-928; SER-941; SER-1073 AND SER-1151; PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-269 (ISOFORM 4); VARIANT [LARGE SCALE ANALYSIS] ILE-628; CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS]; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.