PRO ID |
PR:000037694
Show OBO stanza
/ PAF
|
PRO name |
presenilin-1 sequence variant L282F (human) |
Synonyms |
PRO-short-label: |
hPSEN1/var:L282F |
PRO-proteoform-std: |
UniProtKB:P49768-1, Leu-282, CHEBI:29997 |
|
Definition |
A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29997.
[Alzforum:KD, PMID:19430857, PRO:DAN]
|
Comment |
Requested by=Alzforum. |
PRO Category |
organism-sequence |
Parent |
PR:000036285 presenilin-1 sequence variant (human) |
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