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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43897: Variant p.Cys240Ser

Elongation factor Ts, mitochondrial
Gene: TSFM
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Variant information Variant position: help 240
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Serine (S) at position 240 (C240S, p.Cys240Ser).
Physico-chemical properties: help Change from medium size and polar (C) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In COXPD3; decreased protein abundance; decreased mitochondrial translation products; patient fibroblast phenotype can be rescued by coexpression with wild-type TSFM.
Other resources: help


Sequence information Variant position: help 240
Protein sequence length: help 325
Location on the sequence: help AMQSPSLHKLVLGKYGALVI C ETSEQKTNLEDVGRRLGQHV
Residue conservation: help 
Human                         AMQS--PSLHKLVLGKYGALVICE---TSEQKTNLEDVGRRLGQHV

Mouse                         VTQS--PSLQNLVLGKYGALVICE---TPEQIANLEEVGRR

Rat                           EMQS--PSLQNLVLGKYGALVICQ---TPEQITNLEEVGRR

Bovine                        AMHS--PSLHNLVLGKYGALVICE---TSELKANLADLGRR

Xenopus laevis                ILMADLPSLTNMTFGKYGALVICK-DSDGNLKSNISEIGRR

Zebrafish                     TV----AGQVGIEMGRYGSLVVFQ----GEPKEGTYALGRK

Caenorhabditis elegans        K-----DGTDDIPMGRFISLIALN--QSSPGSISSQQLAGQ

Drosophila                    APTNVGTTEGITQVGKYGAIVAYR---STHPLLDF-EFHKS

Slime mold                    ------STSEKKDVGRLGSIVQFEYQGDCNNMNSLKEFANQ

Fission yeast                 AKQS--SPLQQL--GRIGSMVQIN-----SDLSTRKGLSNQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 46 – 325 Elongation factor Ts, mitochondrial
Alternative sequence 168 – 325 Missing. In isoform 3.
Alternative sequence 216 – 325 Missing. In isoform 4.



Literature citations
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Emperador S.; Bayona-Bafaluy M.P.; Fernandez-Marmiesse A.; Pineda M.; Felgueroso B.; Lopez-Gallardo E.; Artuch R.; Roca I.; Ruiz-Pesini E.; Couce M.L.; Montoya J.;
Eur. J. Hum. Genet. 25:153-156(2016)
Cited for: VARIANT COXPD3 SER-240; CHARACTERIZATION OF VARIANT COXPD3 SER-240; FUNCTION;
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.