Variant position: 1124 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 TAKPEDFPLLHRFSMFVRPH HKQRFSQTCTDLTGRPYPG--ME
Mouse TAKPEHLPLLQRFGMFVRRH HKPQFLQTCADLMGLPTTGKD
Rat TAKPEHLSLLQRFGMFIRRH HKPRFVQTCADLMGLPTIGKG
Bovine TEKPEDLPLLQRFGMFVRPH HKQRFRQMCVDLSG---PG--
Zebrafish TERDEDIALLERLSVLIRPQ HRKQFGELLKSLTG-------
Caenorhabditis elegans V--PHKADLFIACSNVLRSE DKMKYLKKA------------
Drosophila SA-PKVRYMLVGMRKYLKNE HKDEFDRRVGNL---------
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
998 – 1219 GRTAPDPKLTVSTAAAQQLDPQEHLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLLAALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPYPGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDAGPSQSSGPPHGPAASEWGL -> ERRRIPS. In isoform 8.
1024 – 1219 Missing. In isoform 4.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart B.D.; Choi J.; Zaidi S.; Xing C.; Holohan B.; Chen R.; Choi M.; Dharwadkar P.; Torres F.; Girod C.E.; Weissler J.; Fitzgerald J.; Kershaw C.; Klesney-Tait J.; Mageto Y.; Shay J.W.; Ji W.; Bilguvar K.; Mane S.; Lifton R.P.; Garcia C.K.;
Nat. Genet. 47:512-517(2015)
Cited for: INVOLVEMENT IN PFBMFT3; VARIANTS PFBMFT3 LEU-484; LEU-647 AND PRO-1124;
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.