Variant position: 902 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1132 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 TFLRTLVRGVPEYGCVVNLR KTVVNFPVEDEALGGTAFVQM
Mouse TFLSTLVHGVPEYGCMINLQ KTVVNFPVEPGTLGGAAPYQL
Rat AFLSTLVHGVPEYGCMINLQ KTVVNFPVETGALGGAAPHQL
Bovine DFLRTLVRGVPEYGCQVNLR KTVVNFPVEPGALGGAAPLQL
Dog AFLRTLVKGVPEYGCRANLQ KTAVNFPVEDGALGSAAPLQL
Baker's yeast NIKKLAMGGFQKYNAKANRD KIL------------AVSSQS
Fission yeast KFLNLSLRGFEKHNFSTSLE KTVINFENSNGIINNTFFNES
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 – 1132 Telomerase reverse transcriptase
605 – 935 Reverse transcriptase
808 – 1132 Missing. In isoform 2 and isoform 4.
885 – 947 Missing. In isoform 3.
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Armanios M.; Chen J.-L.; Chang Y.-P.C.; Brodsky R.A.; Hawkins A.; Griffin C.A.; Eshleman J.R.; Cohen A.R.; Chakravarti A.; Hamosh A.; Greider C.W.;
Proc. Natl. Acad. Sci. U.S.A. 102:15960-15964(2005)
Cited for: VARIANT DKCA2 ASN-902; CHARACTERIZATION OF VARIANT DKCA2 ASN-902;
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin Z.T.; Beauchamp A.D.; Calado R.T.; Bradford J.W.; Regal J.A.; Shenoy A.; Liang Y.; Lansdorp P.M.; Young N.S.; Ly H.;
Cited for: VARIANT AA SUSCEPTIBILITY ASN-570; CHARACTERIZATION OF VARIANTS ASN-570; ASP-682; ARG-721; MET-726; ASN-902; TRP-979 AND LEU-1127;
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.