Variant position: 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1462 The length of the canonical sequence.
Location on the sequence:
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 GSLLKMGSHEGLLFFVSLMD GTVHYVDEKGKTTQVVSADST
Mouse GSFLKTGSQEGLSFFVSLMD GTVHYVDEKGKTAQVASTDSS
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.
Type Positions Description
1 – 1462 Intraflagellar transport protein 140 homolog
1 – 806 Missing. In isoform 2.
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;
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.