Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 548 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 G-DPPRLSPDPVAGSAVSQEL REGDPVSLSTPLETEF-GSPSE
Mouse D-DQPQLATDPVASLVVSQEL QQGDSV----PLEVEF-NTS
Rat D-DQLQVATDAVASSVVSQEL QQGDSA----PLEVEF-NIS
Bovine D-DPPQVSSDPMVGLALSQEL EEGVPASLPTPLESGF-GSP
Drosophila DLSLPKLSVTLSAEEIL--KL RSGRPKN---AVESPHAGVP
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 – 548 Telomerase Cajal body protein 1
1 – 142 Disordered
54 – 54 Phosphoserine
64 – 64 Phosphoserine; by ATM
85 – 85 Phosphoserine
64 – 64 S -> A. Abolished phosphorylation by ATM and impaired ability to promote DNA repair.
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLY-68;
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Zhong F.; Savage S.A.; Shkreli M.; Giri N.; Jessop L.; Myers T.; Chen R.; Alter B.P.; Artandi S.E.;
Genes Dev. 25:11-16(2011)
Cited for: VARIANTS DKCB3 LEU-164; TYR-376; TRP-398 AND ARG-435; VARIANTS GLY-68 AND GLY-522; CHARACTERIZATION OF VARIANTS DKCB3 LEU-164; TYR-376; TRP-398 AND ARG-435;
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.