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HomeAll Cancer Mutant ClonesGNAS Mutants

Description of the mutations of GNAS (NM_000516) Mutants

Keys for Mutation Description

A.A. substitution
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted


SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC402256 Q12X1234C>TProressive osseous heeroplsi
RC402257 Q31X3191C>TAlbrih herediry oseodysrophy
RC402258 Q35X35103C>TPseudohypoprhyroidism 1
RC402259 Y37X37111C>GAlbrih herediry oseodysrophy
RC402260 R42C42124C>TAlbrih herediry oseodysrophy
RC402261 V92E92275T>AAlbrih herediry oseodysrophy
RC402262 L99P99296T>CAlbrih herediry oseodysrophy
RC402263 A102E102305C>AAlbrih herediry oseodysrophy
RC402264 A102V102305C>TAlbrih herediry oseodysrophy
RC402265 I103T103308T>CAlbrih herediry oseodysrophy
RC402266 I106S106317T>GPseudohypoprhyroidism 1
RC402267 P115L115344C>TAlbrih herediry oseodysrophy
RC402268 P115S115343C>TPseudohypoprhyroidism 1
RC402269 L132P132395T>CAlbrih herediry oseodysrophy
RC402270 W154X154462G>APseudohypoprhyroidism 1
RC402271 D156N156466G>APseudohypoprhyroidism 1
RC402272 V159M159475G>APseudohypoprhyroidism 1
RC402273 R160C160478C>TAlbrih herediry oseodysrophy
RC402274 Y163X163489C>GAlbrih herediry oseodysrophy
RC402275 R165C165493C>TAlbrih herediry oseodysrophy
RC402276 D173N173517G>APseudohypoprhyroidism 1
RC402277 Y190D190568T>GAlbrih herediry oseodysrophy
RC402278 R231H231692G>APseudohypoprhyroidism 1
RC402279 R231C231691C>TAlbrih herediry oseodysrophy
RC402280 T242I242725C>TAlbrih herediry oseodysrophy
RC402281 F246S246737T>CAlbrih herediry oseodysrophy
RC402282 S250R250750C>GPseudohypoprhyroidism 1
RC402283 R258W258772C>TAlbrih herediry oseodysrophy
RC402284 E259V259776A>TPseudohypoprhyroidism 1
RC402285 N264H264790A>CAlbrih herediry oseodysrophy
RC402286 R265H265794G>AAlbrih herediry oseodysrophy
RC402287 E268X268802G>TAlbrih herediry oseodysrophy
RC402288 R280K280839G>APseudohypoprhyroidism 1
RC402289 R280G280838A>GPseudohypoprhyroidism 1
RC402290 W281R281841T>CProressive osseous heeroplsi
RC402291 L282P282845T>CAlbrih herediry oseodysrophy
RC402292 A298P298892G>CAlbrih herediry oseodysrophy
RC402293 P313L313938C>TAlbrih herediry oseodysrophy
RC402294 R336W3361006C>TAlbrih herediry oseodysrophy
RC402295 K338N3381014G>CPseudohypoprhyroidism 1
RC402296 R342X3421024C>TPseudohypoprhyroidism 1
RC402297 H357L3571070A>TAlbrih herediry oseodysrophy
RC402298 H362P3621085A>CPseudohypoprhyroidism 1
RC402299 A366S3661096G>TPseudohypoprhyroidism 1, wih esooxiosis
RC402300 Q384X3841150C>TAlbrih herediry oseodysrophy
RC402301 R385H3851154G>AAlbrih herediry oseodysrophy
RC402302 E392X3921174G>TPseudohypoprhyroidism 1


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