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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q2M1P5: Variant p.Gln994Arg

Kinesin-like protein KIF7
Gene: KIF7
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Variant information Variant position: help 994 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Arginine (R) at position 994 (Q994R, p.Gln994Arg). 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: help Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In BBS; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1; hypomorphic variant in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 994 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1343 The length of the canonical sequence.
Location on the sequence: help VSSRLEHLEKELSEKSGQLR Q GSAQSQQQIRGEIDSLRQEK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VSSRLEHLEKE---------------LSEKSGQLRQGSAQSQQQIRGEIDSLRQEK

Mouse                         VSSRLEHLEKE---------------LSEKSGQLRQGSAQN

Zebrafish                     LSSRIESLERE---------------LTERNGLLRSGSAQD

Slime mold                    QQQQQQQQQQQQQPLILQTTSTNPTIISIKSNKEPSPSSST
Sequence annotation in neighborhood: help 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
Coiled coil 698 – 1057



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.