Variant position: 492 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1219 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 VRSLILTSGTLAPVSSFALE MQIPFPVCLENPHIIDKHQIW
Mouse VRTLILTSGTLAPLSSFALE MQIPFPVCLENPHIIDKNQLW
Rat VRTLILTSGTLAPLSSFALE MQIPFPVCLENPHIIDKNQLW
Bovine VRTLILTSGTLAPMASFSLE MQIPFPVCLENPHVINQHQIW
Zebrafish VRCIILTSGTLSPLSSFTCE MQIPFPVSLENPHVIQRDQIF
Caenorhabditis elegans VRNVLLASGTLSPIQAFTYN MGLNFGAILENEHALKQVPVL
Drosophila VRSVILTSGTLAPLKPLIAE LAIPVAQHLENPHIVDQSQVY
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 – 1219 Regulator of telomere elongation helicase 1
1 – 755 Missing. In isoform 5.
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne A.J.; Vulliamy T.; Kirwan M.; Plagnol V.; Dokal I.;
Am. J. Hum. Genet. 92:448-453(2013)
Cited for: FUNCTION; VARIANTS DKCB5 LYS-251; ILE-492; ARG-710; VAL-739; GLU-897; TRP-957 AND LEU-964; VARIANT DKCB5 HIS-509 (ISOFORM 5); VARIANT DKCB5 HIS-1264 (ISOFORMS 1 AND 6);
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z.; Glousker G.; Molczan A.; Fox A.J.; Lamm N.; Dheekollu J.; Weizman O.E.; Schertzer M.; Wang Z.; Vladimirova O.; Schug J.; Aker M.; Londono-Vallejo A.; Kaestner K.H.; Lieberman P.M.; Tzfati Y.;
Proc. Natl. Acad. Sci. U.S.A. 110:E3408-E3416(2013)
Cited for: INTERACTION WITH TERF1; VARIANT DKCB5 ILE-492;
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.