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UniProtKB/Swiss-Prot Q8N4C8: Variant p.Val771Ala

Misshapen-like kinase 1
Gene: MINK1
Variant information

Variant position:  771
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 Alanine (A) at position 771 (V771A, p.Val771Ala).
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 hydrophobic (V) 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.



Sequence information

Variant position:  771
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1332
The length of the canonical sequence.

Location on the sequence:   LPASHGHLPQAGSLERNRVG  V SSKPDSSPVLSPGNKAKPDD
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                         LPASHGHLPQAGSLERNR--VGVSSKPDSSPVLSPGNKAKPDD

Mouse                         LPASHGHLPQAGSLERNRNRVGASTKLDSSPVLSPGNKAKP

Rat                           LPASHGHLPQAGSLERNRNRVGASTKLDSSPVLSPGNKAKP

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 1 – 1332 Misshapen-like kinase 1
Region 395 – 887 Disordered
Compositional bias 766 – 780 Polar residues
Modified residue 754 – 754 Phosphoserine
Modified residue 763 – 763 Phosphoserine
Modified residue 777 – 777 Phosphoserine
Modified residue 778 – 778 Phosphoserine
Modified residue 782 – 782 Phosphoserine


Literature citations

Identification and functional characterization of a novel human misshapen/Nck interacting kinase-related kinase, hMINK beta.
Hu Y.; Leo C.; Yu S.; Huang B.C.; Wang H.; Shen M.; Luo Y.; Daniel-Issakani S.; Payan D.G.; Xu X.;
J. Biol. Chem. 279:54387-54397(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH NCK1; TISSUE SPECIFICITY; ALTERNATIVE SPLICING; AUTOPHOSPHORYLATION; VARIANTS ALA-771 AND LEU-775;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANTS ALA-771 AND LEU-775;

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.