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Details on Person COL10A1 class II mutants [endoplasmic reticulum lumen]

Class:Id	DefinedSet:9017675
_displayName	COL10A1 class II mutants [endoplasmic reticulum lumen]
_timestamp	2017-08-23 11:54:46
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9017680] Varusai, Thawfeek, 2017-08-23
disease	[Disease:9017625] Schmid metaphyseal chondrodysplasia
hasMember	[EntityWithAccessionedSequence:9017676] COL10A1 Y589D [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:9017679] COL10A1 S600P [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:9017671] COL10A1 S671P [endoplasmic reticulum lumen] [Homo sapiens]
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
name	COL10A1 class II mutants
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9017688] R-HSA-9017675.1
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No pathways have been reviewed or authored by COL10A1 class II mutants [endoplasmic reticulum lumen] (9017675)