Variant position: 729 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 941 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 P---KLWMMKGQIEEQKEMMEKA REAYNQGLKKCPHSTPLWLLL
Mouse P---KLWMMKGQIEEQGELMEKA REAYNQGLKKCPHSTPLW
Rat P---KLWMMKGQIEEQGELMERA REAYNQGLKKCPHSTPLW
Bovine P---KLWMMKGQIEEQEELVEKA REAYNQGLKKCPHSTPLW
Baker's yeast PICHKFFLQLGQIYHSMGNIEMS RETYLSGTRLVPNCPLLW
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 – 941 Pre-mRNA-processing factor 6
723 – 755 HAT 8
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
Tanackovic G.; Ransijn A.; Ayuso C.; Harper S.; Berson E.L.; Rivolta C.;
Am. J. Hum. Genet. 88:643-649(2011)
Cited for: VARIANT RP60 TRP-729; CHARACTERIZATION OF VARIANT RP60 TRP-729; FUNCTION; SUBCELLULAR LOCATION;
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.