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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RY7: Variant p.Gly212Arg

Intraflagellar transport protein 140 homolog
Gene: IFT140
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Variant information Variant position: help 212 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 Glycine (G) to Arginine (R) at position 212 (G212R, p.Gly212Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization; partial loss of function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1462 The length of the canonical sequence.
Location on the sequence: help GSLLKMGSHEGLLFFVSLMD G TVHYVDEKGKTTQVVSADST 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                         GSLLKMGSHEGLLFFVSLMDGTVHYVDEKGKTTQVVSADST

Mouse                         GSFLKTGSQEGLSFFVSLMDGTVHYVDEKGKTAQVASTDSS
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 – 1462 Intraflagellar transport protein 140 homolog
Alternative sequence 1 – 806 Missing. In isoform 2.
Beta strand 212 – 217



Literature citations
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I.; Saunier S.; Hanein S.; Filhol E.; Bizet A.A.; Collins F.; Salih M.A.; Gerber S.; Delphin N.; Bigot K.; Orssaud C.; Silva E.; Baudouin V.; Oud M.M.; Shannon N.; Le Merrer M.; Roche O.; Pietrement C.; Goumid J.; Baumann C.; Bole-Feysot C.; Nitschke P.; Zahrate M.; Beales P.; Arts H.H.; Munnich A.; Kaplan J.; Antignac C.; Cormier-Daire V.; Rozet J.M.;
Am. J. Hum. Genet. 90:864-870(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS SRTD9 ARG-212; MET-233; MET-292; CYS-311; GLU-522; GLN-576 AND LYS-664; CHARACTERIZATION OF VARIANTS SRTD9 ARG-212; CYS-311 AND LYS-664; The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
Bayat A.; Kerr B.; Douzgou S.;
Clin. Dysmorphol. 26:247-251(2017)
Cited for: VARIANTS SRTD9 ARG-212 AND 760-ARG--PRO-1462 DEL; Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm B.M.; Willer J.R.; Sadeghpour A.; Golzio C.; Crouch E.; Vergano S.S.; Katsanis N.; Davis E.E.;
Hum. Genomics 11:16-16(2017)
Cited for: VARIANT SRTD9 ARG-212; CHARACTERIZATION OF VARIANT SRTD9 ARG-212; FUNCTION;
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.