| PRO ID |
PR:000037668
Show OBO stanza
/ PAF
|
| PRO name |
presenilin-1 sequence variant L250V (human) |
| Synonyms |
| PRO-short-label: |
hPSEN1/var:L250V |
| PRO-proteoform-std: |
UniProtKB:P49768-1, Leu-250, CHEBI:30015 |
|
| Definition |
A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:30015.
[Alzforum:KD, PMID:12686406, PRO:DAN]
|
| Comment |
Requested by=Alzforum. |
| PRO Category |
organism-sequence |
| Parent |
PR:000036285 presenilin-1 sequence variant (human) |
| Term Hierarchy Visualization |
 DAG
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