UniProtKB/SwissProt variant VAR

E3 ubiquitin-protein ligase TTC3
Gene: TTC3
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Variant information Variant position:

1038
Type of variant:

LB/B
Residue change:

From Serine (S) to Cysteine (C) at position 1038 (S1038C, p.Ser1038Cys).
Physico-chemical properties:

Change from small size and polar (S) to medium size and polar (C)
BLOSUM score:

-1
Variant description:

In an extended family with high risk of late-onset Alzheimer Disease.
Other resources:

Variant rs377155188 [ dbSNP | Ensembl ]

Sequence information Variant position:

1038
Protein sequence length:

2025
Location on the sequence:

KVKNKSKKKKPKDSKPMLVG S GTTSVTSNNEIITSSEDHSN
Residue conservation:

Human                         KVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSN

Mouse                         KVKNKGKKKKPKDSKPMLVGSGAASVAPSSEAVT-PEDHSR

Rat                           KVKNKGKKKKPKDSKPMLVGSGTASVTPSSETVT-PEDHNR

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 2025	E3 ubiquitin-protein ligase TTC3
Region	1012 – 1068	Disordered
Compositional bias	1038 – 1052	Polar residues

Literature citations
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.
Kohli M.A.; Cukier H.N.; Hamilton-Nelson K.L.; Rolati S.; Kunkle B.W.; Whitehead P.L.; Zuechner S.L.; Farrer L.A.; Martin E.R.; Beecham G.W.; Haines J.L.; Vance J.M.; Cuccaro M.L.; Gilbert J.R.; Schellenberg G.D.; Carney R.M.; Pericak-Vance M.A.;
Neurol. Genet. 2:E41-E41(2016)
Cited for: VARIANT CYS-1038;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53804: Variant p.Ser1038Cys