Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 312 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 DRQSPINIVTTKAKVDKKLG RFFFSGYDKKQTWTVQNNGHS
Mouse NQQSPINIVTARTKVNPRLT PFILVGYDQKQQWPIKNNQHT
Rat NQQSPINIVTSKTKLNPSLT PFTFVGYDQKKKWEVKNNQHS
Bovine NRQSPVNIVTAKTQLDPNLG RFSFSGYNMKHQWVVQNNGHT
Rabbit SRQSPINIVTTKAEVDHSLG RFHFSGYDQREARLVENNGHS
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 – 284 Carbonic anhydrase 4
21 – 285 Alpha-carbonic anhydrase
88 – 88 Proton acceptor
46 – 229
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
Alvarez B.V.; Vithana E.N.; Yang Z.; Koh A.H.; Yeung K.; Yong V.; Shandro H.J.; Chen Y.; Kolatkar P.; Palasingam P.; Zhang K.; Aung T.; Casey J.R.;
Invest. Ophthalmol. Vis. Sci. 48:3459-3468(2007)
Cited for: INTERACTION WITH SLC4A4; VARIANT RP17 HIS-69; VARIANT LYS-177; CHARACTERIZATION OF VARIANT RP17 HIS-69;
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.