Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 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 EQTFSYFIVDPIRRHLHVLY HCYGVGDMS
Mouse EQTFSYFVVDPIKRHVNVLY HCYGVGHMA
Rat EQTFSYFVVDPIKRHVNVLY HCYGVGEMA
Bovine EQTFSYFIVDPIKRHVHVLY HCYGMGEVS
Xenopus tropicalis QQTFAYLIVDPLKRHVYVLY HCFGGGAF-
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 – 267 Cilia- and flagella-associated protein 300
100 – 267 Missing. In isoform 3.
C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia.
Fassad M.R.; Shoemark A.; le Borgne P.; Koll F.; Patel M.; Dixon M.; Hayward J.; Richardson C.; Frost E.; Jenkins L.; Cullup T.; Chung E.M.K.; Lemullois M.; Aubusson-Fleury A.; Hogg C.; Mitchell D.R.; Tassin A.M.; Mitchison H.M.;
Am. J. Hum. Genet. 102:956-972(2018)
Cited for: VARIANTS CILD38 52-GLN--SER-267 DEL; 121-ARG--SER-267 DEL AND ARG-259; INVOLVEMENT IN CILD38; INDUCTION;
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.