Variant position: 332 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1227 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 RQQWEDDQRQADRDWYMMDE GY----DEFHNPLAYSSEDYVRRRE
Bovine RQQWEDDQRQADRDWYMMDE GY----DEFHNPLAYSSDDYV
Baker's yeast -----SEVVEEDREWYDNDD DY---GNLVPEPLSELPE---
Fission yeast RQRWEEEQAHLDRDWYMNSE SQNLLGDEVHNPFSDFETVED
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 – 1227 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
99 – 786 Missing. In isoform 2.
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
Ajmal M.; Khan M.I.; Neveling K.; Khan Y.M.; Azam M.; Waheed N.K.; Hamel C.P.; Ben-Yosef T.; De Baere E.; Koenekoop R.K.; Collin R.W.; Qamar R.; Cremers F.P.;
J. Med. Genet. 51:444-448(2014)
Cited for: INVOLVEMENT IN RP84; VARIANT RP84 ASP-332;
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.