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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14746: Variant p.Ala279Thr

Telomerase reverse transcriptase
Gene: TERT
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Variant information Variant position: help 279
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 279 (A279T, p.Ala279Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 279
Protein sequence length: help 1132
Location on the sequence: help PGRTRGPSDRGFCVVSPARP A EEATSLEGALSGTRHSHPSV
Residue conservation: help 
Human                         PGRTRGPSDRGFCVVSPARP-AEEATSLEGALSGTRHSHPSV

                              --RAQQPPVSEAPAVTPAVA-ASPAASWEGGPPGTRPTTP-

Mouse                         SGKSWVPS----PARSPEVPTAEKDLSSKGKVSDLSLSGSV

Rat                           SGKTWAPS----PAASPKVPPAAKNLSLKGKASDPSLSGSV

Bovine                        P-----------RVVTPTRD-AAEAKSRKGDVPGPCRLFPG

Baker's yeast                 ---------------------LTEPVTNKQFLHKLNINSSS

Fission yeast                 ------------NSISISRFSIFYRSSYKKFKQDLYFNLHS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1132 Telomerase reverse transcriptase
Region 210 – 320 Disordered
Region 231 – 324 Linker



Literature citations
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Yamaguchi H.; Calado R.T.; Ly H.; Kajigaya S.; Baerlocher G.M.; Chanock S.J.; Lansdorp P.M.; Young N.S.;
N. Engl. J. Med. 352:1413-1424(2005)
Cited for: VARIANTS PFBMFT1 THR-202; TYR-412; MET-694; CYS-772 AND MET-1090; VARIANTS THR-279; GLU-441 DEL AND THR-1062;
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.