Sequence information
Variant position: 682 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:
FSVLNYERARRPGLLGASVL
G LDDIHRAWRTFVLRVRAQDP
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 FSVLNYERARRPGLLGASVLG LDDIHRAWRTF---VLRVRAQDP
FSVLNYERARRPSLLGASMLG MDDIHRAWRTF---VLRIRA
Mouse FSMLNYERTKHPHLMGSSVLG MNDIYRTWRAF---VLRVRA
Rat FSVLNYERTKHPNLMGASVLG TSDSYRIWRTF---VLRVRA
Bovine FAVLNYERARRPGLLGASVLG MDDIHRAWRAF---VLPLRA
Baker's yeast QKILEYLRNKRPTSF-TKIYS PTQIADRIKEFKQRLLK-KF
Fission yeast ASILKHLINEESSGIPFNL-- --EVYMKLLTFKKDLLKHRM
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
Chain
1 – 1132
Telomerase reverse transcriptase
Domain
605 – 935
Reverse transcriptase
Literature citations
Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.
Liang J.; Yagasaki H.; Kamachi Y.; Hama A.; Matsumoto K.; Kato K.; Kudo K.; Kojima S.;
Haematologica 91:656-658(2006)
Cited for: VARIANTS AA ASP-682 AND MET-726; CHARACTERIZATION OF VARIANT AA MET-726;
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.;
Blood 109:524-532(2007)
Cited for: VARIANT AA ASN-570; CHARACTERIZATION OF VARIANTS ASN-570; ASP-682; ARG-721; MET-726; ASN-902; TRP-979 AND LEU-1127;
Disclaimer:
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.