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UniProtKB/Swiss-Prot Q15058: Variant p.His849Asp

Kinesin-like protein KIF14
Gene: KIF14
Variant information

Variant position:  849
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Histidine (H) to Aspartate (D) at position 849 (H849D, p.His849Asp).
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 (H) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  In MCPH20; Decreased expression at the mRNA level and loss of localization at the midbody during cytokinesis and consequently loss of CIT/CRIK recruitment to the midbody, when analyzed in primary fibroblasts from a patient who is a compound heterozygous with variant V-1221.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  849
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1648
The length of the canonical sequence.

Location on the sequence:   KYKPNSSHDIQLSGVLIADD  H CTIKNFGGTVSIIPVGEAKT
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                         KYKPNSSHDIQLSGVLIADDHCTIKNFGGTVSIIPVGEAKT

Mouse                         KHTPSSSHDIQLSGVLIADDHCTIRNFGGTVSIVPAGEAKT

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 – 1648 Kinesin-like protein KIF14
Domain 825 – 891 FHA


Literature citations

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A.; Shaheen R.; Rasool S.; Waseem S.S.; Ewida N.; Budde B.; Kawalia A.; Motameny S.; Khan K.; Fatima A.; Jameel M.; Ullah F.; Akram T.; Ali Z.; Abdullah U.; Irshad S.; Hoehne W.; Noegel A.A.; Al-Owain M.; Hoertnagel K.; Stoebe P.; Baig S.M.; Nuernberg P.; Alkuraya F.S.; Hahn A.; Hussain M.S.;
Ann. Neurol. 82:562-577(2017)
Cited for: INVOLVEMENT IN MCPH20; VARIANTS MCPH20 88-LEU--VAL-1648 DEL; VAL-827 DEL; ASP-849 AND VAL-1221; SUBCELLULAR LOCATION;

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.