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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
F9(227-461) A436V [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:9670828] Shamovsky, Veronica, 2019年12月17日
crossReference
[DatabaseIdentifier:11944960] Mondo:0010604
[DatabaseIdentifier:9670861] ClinGen:CA255416
dbId
9670807
disease
[Disease:9670882] hemophilia B
displayName
F9(227-461) A436V [plasma membrane]
endCoordinate
461
hasModifiedResidue
[ReplacedResidue:9670833] L-alanine 436 replaced with L-valine
inDisease
true
literatureReference
[LiteratureReference:9670818] Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site
[LiteratureReference:9670843] Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain
maxDepth
1
memberOf
[CandidateSet:R-HSA-9670837] F9(227-461) variant [plasma membrane] - Homo sapiens
name
F9(227-461) A436V
factor IXa heavy chain A436V
referenceEntity
[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9670807
startCoordinate
227
Referrals
(hasMember)
[CandidateSet:R-HSA-9670837] F9(227-461) variant [plasma membrane]
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