Variant position: 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 190 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 WAEFVKLAELPCLEDLVFVG NPLEEKHSAENNWIEEATKRV
Mouse WAEFLKLAELPCLEDLVFVG NPLEEKHSAEGNWIDEATKRV
Rat WAEFVKLAELPCLEDLVFVG NPLEEKHSAEGNWIEEATKRV
Bovine WAEFVKLAELPCLEDLVFVG NPLEEKHSAEGNWVEEATKRV
Xenopus laevis WAEFSKLGELPLLGDIVFVG NPLEEKHTAEGNWMEEAVKRL
Xenopus tropicalis WAEFSKLGELPLLEDMVFVG NPLEERHTAEGNWLEEAVKRL
Zebrafish WGEFLKLADLPSLVDLVFVG NPLEEKYSADGNWIEEATKRL
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 – 190 Dynein light chain 1, axonemal
150 – 190 LRRCT
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
Mazor M.; Alkrinawi S.; Chalifa-Caspi V.; Manor E.; Sheffield V.C.; Aviram M.; Parvari R.;
Am. J. Hum. Genet. 88:599-607(2011)
Cited for: VARIANT CILD16 SER-150; SUBUNIT; INTERACTION WITH TUBULIN; INTERACTION WITH DNAH5; CHARACTERIZATION OF VARIANT CILD16 SER-150; FUNCTION; INVOLVEMENT IN CILD16;
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.