Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Ala85Val (p.A85V), PSEN2 p.Ala85Val (p.A85V)
(
ENST00000422240.6,
ENST00000678320.1,
ENST00000626989.3,
ENST00000366782.6,
ENST00000677414.1,
ENST00000677880.1,
ENST00000676945.1,
ENST00000677599.1,
ENST00000366783.8,
ENST00000679088.1 )
ENSG00000288674 p.Thr122Pro (p.T122P), PSEN2 p.Thr122Pro (p.T122P) ( ENST00000679088.1, ENST00000472139.2, ENST00000366783.8, ENST00000676945.1, ENST00000677599.1, ENST00000677414.1, ENST00000677880.1, ENST00000626989.3, ENST00000366782.6, ENST00000678320.1, ENST00000422240.6 )
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R) ( ENST00000676945.1, ENST00000677599.1, ENST00000366783.8, ENST00000679088.1, ENST00000472139.2, ENST00000422240.6, ENST00000678320.1, ENST00000626989.3, ENST00000366782.6, ENST00000677880.1, ENST00000677414.1 )
ENSG00000288674 p.Thr122Met (p.T122M), PSEN2 p.Thr122Met (p.T122M) ( ENST00000679088.1, ENST00000472139.2, ENST00000366783.8, ENST00000676945.1, ENST00000677599.1, ENST00000677880.1, ENST00000677414.1, ENST00000626989.3, ENST00000366782.6, ENST00000678320.1, ENST00000422240.6 )
ENSG00000288674 p.Ser130Leu (p.S130L), PSEN2 p.Ser130Leu (p.S130L) ( ENST00000366783.8, ENST00000472139.2, ENST00000679088.1, ENST00000677599.1, ENST00000676945.1, ENST00000366782.6, ENST00000626989.3, ENST00000677414.1, ENST00000677880.1, ENST00000422240.6, ENST00000678320.1 )
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I) ( ENST00000677414.1, ENST00000677880.1, ENST00000366782.6, ENST00000626989.3, ENST00000678320.1, ENST00000422240.6, ENST00000472139.2, ENST00000679088.1, ENST00000366783.8, ENST00000677599.1, ENST00000676945.1 )
ENSG00000288674 p.Met239Val (p.M239V), PSEN2 p.Met239Val (p.M239V) ( ENST00000366783.8, ENST00000472139.2, ENST00000679088.1, ENST00000677599.1, ENST00000676945.1, ENST00000366782.6, ENST00000626989.3, ENST00000677880.1, ENST00000677414.1, ENST00000422240.6, ENST00000678320.1 )
ENSG00000288674 p.Met239Ile (p.M239I), PSEN2 p.Met239Ile (p.M239I) ( ENST00000677599.1, ENST00000676945.1, ENST00000472139.2, ENST00000679088.1, ENST00000366783.8, ENST00000678320.1, ENST00000422240.6, ENST00000677880.1, ENST00000677414.1, ENST00000366782.6, ENST00000626989.3 )
ENSG00000288674 p.Thr430Met (p.T430M), PSEN2 p.Thr430Met (p.T430M) ( ENST00000366783.8, ENST00000472139.2, ENST00000679088.1, ENST00000677599.1, ENST00000676945.1, ENST00000366782.6, ENST00000626989.3, ENST00000677414.1, ENST00000677880.1, ENST00000422240.6, ENST00000678320.1 )
ENSG00000288674 p.Asp439Ala (p.D439A), PSEN2 p.Asp439Ala (p.D439A) ( ENST00000366783.8, ENST00000472139.2, ENST00000679088.1, ENST00000677599.1, ENST00000676945.1, ENST00000366782.6, ENST00000626989.3, ENST00000677880.1, ENST00000677414.1, ENST00000422240.6, ENST00000678320.1 )
ENSG00000288674 p.Ala85Val (p.A85V), PSEN2 p.Ala85Val (p.A85V) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Thr122Pro (p.T122P), PSEN2 p.Thr122Pro (p.T122P) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R) ( ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1, ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1 )
ENSG00000288674 p.Thr122Met (p.T122M), PSEN2 p.Thr122Met (p.T122M) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Ser130Leu (p.S130L), PSEN2 p.Ser130Leu (p.S130L) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Met239Val (p.M239V), PSEN2 p.Met239Val (p.M239V) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Met239Ile (p.M239I), PSEN2 p.Met239Ile (p.M239I) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Thr430Met (p.T430M), PSEN2 p.Thr430Met (p.T430M) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 )
ENSG00000288674 p.Asp439Ala (p.D439A), PSEN2 p.Asp439Ala (p.D439A) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Alzheimer disease 4
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs