Variant position: 194 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 499 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 T--QGQQLSEEELERLEEACDM ALELNASKHRIYEYVESRMSF
Mouse T--QGQQLSDEELERLEEACDM ALELNASKHRIYEYVESRM
Xenopus laevis T--QGQQLTDEELERIEEACDM ALELNQSKHRIYEYVESRM
Xenopus tropicalis T--QGQQLTDEELERIEEACDM ALELNQSKHRIYEYVESRM
Zebrafish T--QGTMLGDDELQRLEEACDM ALELNQSKHRIYEYVESRM
Baker's yeast SFKNKEPLDIKTRTQILEANSI LENLWKLQEDIGQYIASKI
Fission yeast T--VGKPLPDEMIKNVKNCCEA IQQLGEEKQKIIEYVQSRI
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.
Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP.
Liu S.; Li P.; Dybkov O.; Nottrott S.; Hartmuth K.; Luehrmann R.; Carlomagno T.; Wahl M.C.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 78-333 IN COMPLEX WITH SNU13 AND STEM-LOOP RNA OF U4 SNRNA; COILED-COIL DOMAIN; INTERACTION WITH PRPF6; CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216; MUTAGENESIS OF HIS-270;
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Vithana E.N.; Abu-Safieh L.; Allen M.J.; Carey A.; Papaioannou M.; Chakarova C.; Al-Maghtheh M.; Ebenezer N.D.; Willis C.; Moore A.T.; Bird A.C.; Hunt D.M.; Bhattacharya S.S.;
Mol. Cell 8:375-381(2001)
Cited for: VARIANTS RP11 GLU-194 AND RP11 PRO-216; TISSUE SPECIFICITY;
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Deery E.C.; Vithana E.N.; Newbold R.J.; Gallon V.A.; Bhattacharya S.S.; Warren M.J.; Hunt D.M.; Wilkie S.E.;
Hum. Mol. Genet. 11:3209-3219(2002)
Cited for: CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216; SUBCELLULAR LOCATION; NUCLEAR LOCALIZATION SIGNAL; MUTAGENESIS OF 351-ARG--GLU-364;
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.