Variant position: 25 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 551 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 LLLCECLLLVA-------GYA-HDDDWI DPTDMLNYDAASGTMRK------SQAK
Mouse LLLCECLLLIT-------GYA-HDDDWI DPTDMLNYDAASG
Rat LLLCGCLLLIT-------GYA-HDDDWI DPTDMLNYDAASG
Bovine LLLCECLWLIT-------AYA-HDDEWI DPTDMLNYDAASG
Xenopus laevis LFLLVALYLSP-------VYGDYTDEWI DPSDMLNYDAASG
Zebrafish LVVFFCFVVIESAKIRIDGY--NDEAWI DPYDMLNYDPTTK
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
19 – 551 Chloride channel CLIC-like protein 1
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L.; Jiao X.; D'Atri I.; Ono F.; Nelson R.; Chan C.C.; Nakaya N.; Ma Z.; Ma Y.; Cai X.; Zhang L.; Lin S.; Hameed A.; Chioza B.A.; Hardy H.; Arno G.; Hull S.; Khan M.I.; Fasham J.; Harlalka G.V.; Michaelides M.; Moore A.T.; Coban Akdemir Z.H.; Jhangiani S.; Lupski J.R.; Cremers F.P.M.; Qamar R.; Salman A.; Chilton J.; Self J.; Ayyagari R.; Kabir F.; Naeem M.A.; Ali M.; Akram J.; Sieving P.A.; Riazuddin S.; Baple E.L.; Riazuddin S.A.; Crosby A.H.; Hejtmancik J.F.;
PLoS Genet. 14:E1007504-E1007504(2018)
Cited for: INVOLVEMENT IN RP32; VARIANT RP32 GLU-25; FUNCTION; INTERACTION WITH CALR; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT RP32 GLU-25;
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.