SWISSVAR
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1 protein found in SwissVar (37 variants)

with gene/protein name O14773

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O14773 TPP1_HUMAN ceroid lipofuscinosis, neuronal, 2 p.Ser62Thr
p.Gly77Arg
p.Arg127Gln
p.Ser153Pro
p.Pro202Leu
p.Arg206His
p.Arg206Cys
p.Tyr209His
p.Arg266Gln
p.Val277Met
p.Gln278Arg
p.Gln278Pro
p.Gly284Val
p.Asn286Ser
p.Ile287Asn
p.Arg339Gln
p.Glu343Lys
p.Thr353Pro
p.Cys365Tyr
p.Cys365Arg
p.Ser382Arg
p.Val385Asp
p.Gly389Glu
p.Gln422His
p.Lys428Asn
p.Arg447His
p.Ala448Val
p.Ala454Glu
p.Gly473Arg
p.Ser475Leu
p.Phe481Cys
p.Gly482Arg
p.Gly501Cys
p.Asn504Tyr
p.Pro544Ser
p.Trp548Arg

3EDYA (77)
3EDYA (127)
3EDYA (153)

3EE6A (206)
3EE6A (206)


3EDYA (277)

3EDYA (278)
3EE6B (284)
3EDYA (286)
3EDYA (287)

3EDYA (343)
3EE6B (353)
3EDYA (365)
3EDYA (365)

3EE6A (385)
3EE6A (389)
3EDYA (422)
3EE6A (428)
3EDYA (447)

3EDYA (454)
3EDYA (473)
3EE6A (475)
3EE6A (481)
3EE6A (482)




O14773 TPP1_HUMAN spinocerebellar ataxia, autosomal recessive, 7 p.Val466Gly