Variant position: 795 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 855 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 KGANAKSYYQSSV-----QYLYREL LVHLDDPERAIQDAILEVLKE
Mouse ESLDGKSAYQSSV-----QFLYREL LVHLDDPESAIQDTVL
Drosophila AETDTEENYEKEVWDAIVKRAMDLL LLYHESPEKDMRAAVA
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
2 – 855 Dynein assembly factor 5, axonemal
784 – 822 HEAT 10
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
Horani A.; Druley T.E.; Zariwala M.A.; Patel A.C.; Levinson B.T.; Van Arendonk L.G.; Thornton K.C.; Giacalone J.C.; Albee A.J.; Wilson K.S.; Turner E.H.; Nickerson D.A.; Shendure J.; Bayly P.V.; Leigh M.W.; Knowles M.R.; Brody S.L.; Dutcher S.K.; Ferkol T.W.;
Am. J. Hum. Genet. 91:685-693(2012)
Cited for: VARIANT CILD18 PRO-795; CHARACTERIZATION OF VARIANT CILD18 PRO-795; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.