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UniProtKB/Swiss-Prot Q2M1P5: Variant p.Arg1068Trp

Kinesin-like protein KIF7
Gene: KIF7
Variant information

Variant position:  1068
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Arginine (R) to Tryptophan (W) at position 1068 (R1068W, p.Arg1068Trp).
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 large size and basic (R) to large size and aromatic (W)
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

Involvement in disease:  Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:21552264}. Note=The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In BBS; the patient is a compound heterozygote for two frameshift mutations in BBS9; hypomorphic variant in vitro.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1068
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1343
The length of the canonical sequence.

Location on the sequence:   AIEALDAAIEYKNEAITCRQ  R VLRASASLLSQCEMNLMAKL
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                         AIEALDAAIEY-KNEAIT-CRQRVLRASASLLSQCEMNLMAKL

Mouse                         AIEALDAAIEY-KNEAIT-CRQRVLRASASLLSQCEMNLMA

Zebrafish                     AIEALDAAIEY-KNEAIT-QRQRQLRASGSMLTQWEMNLMA

Slime mold                    YLNKLGIYSDYPTNEKISLAQHNQISLAKELYGGNSKQYYD

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 – 1343 Kinesin-like protein KIF7
Region 358 – 1206 Interaction with SMO


Literature citations

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A.; Thomas S.; Coene K.L.; Davis E.E.; Alanay Y.; Ogur G.; Uz E.; Buzas D.; Gomes C.; Patrier S.; Bennett C.L.; Elkhartoufi N.; Frison M.H.; Rigonnot L.; Joye N.; Pruvost S.; Utine G.E.; Boduroglu K.; Nitschke P.; Fertitta L.; Thauvin-Robinet C.; Munnich A.; Cormier-Daire V.; Hennekam R.; Colin E.; Akarsu N.A.; Bole-Feysot C.; Cagnard N.; Schmitt A.; Goudin N.; Lyonnet S.; Encha-Razavi F.; Siffroi J.P.; Winey M.; Katsanis N.; Gonzales M.; Vekemans M.; Beales P.L.; Attie-Bitach T.;
Nat. Genet. 43:601-606(2011)
Cited for: INVOLVEMENT IN CILIOPATHIES; INVOLVEMENT IN HLS2; VARIANTS BBS GLY-641; ARG-994 AND TRP-1068; VARIANT ACLS GLN-702; VARIANTS LEU-632; PRO-759; ARG-834 AND GLN-1115; CHARACTERIZATION OF VARIANTS BBS GLY-641; ARG-994 AND TRP-1068; CHARACTERIZATION OF VARIANT ACLS GLN-702; CHARACTERIZATION OF VARIANTS PRO-759 AND ARG-834;

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.