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UniProtKB/Swiss-Prot P46821: Variant p.Ile594Val

Microtubule-associated protein 1B
Gene: MAP1B
Variant information

Variant position:  594
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Isoleucine (I) to Valine (V) at position 594 (I594V, p.Ile594Val).
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.



Sequence information

Variant position:  594
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2468
The length of the canonical sequence.

Location on the sequence:   VEKPPKVESKEKVMVKKDKP  I KTETKPSVTEKEVPSKEEPS
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                         VEKPPKVESKEKVMVKKDKPIKTETKPSVTEKEVPSKEEPS

Mouse                         VEKTPKVESKEKVLVKKDKPVKTESKPSVTEKEVSSKEEQS

Rat                           VEKTPKVESKEKVIVKKDKPGKVESKPSVTEKEVPSKEEQS

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 – 2468 Microtubule-associated protein 1B
Chain 2 – 2206 MAP1B heavy chain
Compositional bias 589 – 790 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats)
Modified residue 614 – 614 Phosphoserine


Literature citations

Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.
Lien L.L.; Feener C.; Fischbach N.; Kunkel L.M.;
Genomics 22:273-280(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-594;

Hmob3 brain-specific sequence is a part of phylogenetically conserved human MAP1B gene 3'-untranslated region.
Dergunova L.V.; Raevskaya N.M.; Vladychenskaya I.P.; Limborska S.A.;
Biomol. Eng. 20:91-96(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-594;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT VAL-594;

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.