Annotation Detail
Information
- Associated Genes
- SNCA
- Associated Variants
-
SNCA p.Ala53Thr (p.A53T)
(
ENST00000336904.7,
ENST00000345009.8,
ENST00000394986.5,
ENST00000394989.6,
ENST00000394991.8,
ENST00000420646.6,
ENST00000502987.5,
ENST00000505199.5,
ENST00000506244.5,
ENST00000508895.5,
ENST00000611107.1,
ENST00000618500.4,
ENST00000673718.1,
ENST00000673902.1,
ENST00000674129.1 )
SNCA p.Glu46Lys (p.E46K) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
SNCA p.Ala30Pro (p.A30P) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
SNCA p.Ala53Thr (p.A53T) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
SNCA p.Glu46Lys (p.E46K) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
SNCA p.Ala30Pro (p.A30P) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 ) - Associated Disease
- Parkinson Disease, Familial, Type 1
- Source Database
- DisGeNET
- Description
- Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.
- Pubmed
- 17012252
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2006
Drugs