UniProtKB/SwissProt variant VAR

Transmembrane protein 240
Gene: TMEM240
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Variant information Variant position:

80
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Methionine (M) at position 80 (T80M, p.Thr80Met).
Physico-chemical properties:

Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score:

-1
Variant description:

In SCA21.
Other resources:

Variant rs606231454 [ dbSNP | Ensembl ]

Sequence information Variant position:

80
Protein sequence length:

173
Location on the sequence:

YVIPYDGDQSVVDASENYFV T DSVTKQEIDLMLGLLLGFCI
Residue conservation:

Human                         YVIPYDGDQSVVDASENYFVTDSVTKQEIDLMLGLLLGFCI

Mouse                         YVIPYDGDQSVVDASENYFVTDNVTKQEIDLMLGLLLGFCI

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 173	Transmembrane protein 240

Literature citations
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Delplanque J.; Devos D.; Huin V.; Genet A.; Sand O.; Moreau C.; Goizet C.; Charles P.; Anheim M.; Monin M.L.; Buee L.; Destee A.; Grolez G.; Delmaire C.; Dujardin K.; Dellacherie D.; Brice A.; Stevanin G.; Strubi-Vuillaume I.; Duerr A.; Sablonniere B.;
Brain 137:2657-2663(2014)
Cited for: INVOLVEMENT IN SCA21; VARIANTS SCA21 MET-80; CYS-116; LYS-149; LEU-170 AND TRP-171; Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling E.A.R.; Duarri A.; Verschuuren-Bemelmans C.C.; Fokkens M.R.; Karjalainen J.M.; Smeets C.J.L.M.; de Boer-Bergsma J.J.; van der Vries G.; Dooijes D.; Bampi G.B.; van Diemen C.; Brunt E.; Ippel E.; Kremer B.; Vlak M.; Adir N.; Wijmenga C.; van de Warrenburg B.P.C.; Franke L.; Sinke R.J.; Verbeek D.S.;
Brain 140:2860-2878(2017)
Cited for: VARIANT SCA21 MET-80;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5SV17: Variant p.Thr80Met