Variant position: 503 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 661 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 VWNNMVSKRIEDYGLKPVPG DLVLKG-----------------------------ATATYIEEDDVNN--YS
Mouse VWNTMVSRRIEEYGLRPVPG DLVLKG---------------
Bovine VWNNMVSKRIDEYGLKPVPG DLVLKG---------------
Baker's yeast VWNSIASKRIELHGLKLVVG DLVIDT-----SEKSPLISGI
Fission yeast VWNRVASWRIKNLGDRPVVG DLVYSTESNGLSQKSPIVDP-
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 – 661 Pseudouridylate synthase 7 homolog
370 – 580 TRUD
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Shaheen R.; Tasak M.; Maddirevula S.; Abdel-Salam G.M.H.; Sayed I.S.M.; Alazami A.M.; Al-Sheddi T.; Alobeid E.; Phizicky E.M.; Alkuraya F.S.;
Hum. Genet. 138:231-239(2019)
Cited for: FUNCTION; INVOLVEMENT IN IDDABS; VARIANT IDDABS TYR-503; CHARACTERIZATION OF VARIANT IDDABS TYR-503;
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.