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Details on Person COL10A1 D648G [endoplasmic reticulum lumen]

Class:Id	EntityWithAccessionedSequence:9017630
_displayName	COL10A1 D648G [endoplasmic reticulum lumen]
_timestamp	2017-08-23 11:52:27
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9017635] Varusai, Thawfeek, 2017-08-23
disease	[Disease:9017625] Schmid metaphyseal chondrodysplasia
endCoordinate	680
hasModifiedResidue	[ReplacedResidue:9017614] L-aspartic acid 648 replaced with glycine
literatureReference	[LiteratureReference:9017608] Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer [LiteratureReference:9017618] Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize
modified	[InstanceEdit:9017680] Varusai, Thawfeek, 2017-08-23
name	COL10A1 D648G
referenceEntity	[ReferenceGeneProduct:51144] UniProt:Q03692 COL10A1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9017655] R-HSA-9017630.1
startCoordinate	1
(hasMember)	[DefinedSet:9018651] Cleaved COL10A1 class III mutants [endoplasmic reticulum lumen] [Homo sapiens]
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No pathways have been reviewed or authored by COL10A1 D648G [endoplasmic reticulum lumen] (9017630)