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genetics:variants:ser114leu [Retinoblastoma Wiki]
 

p.Ser114Leu

Defining Data

  • g.39522C>A
  • observed 1 time
  • in DNA from blood of unilateral rb and unaffected relatives


Classification of Pathogenicity

weak evidence against pathogenicity

  • Family Y: The mutation is present (heterozygous) in a child with isolated unilateral Rb and his mother without Rb



Additional Info

Cave: not yet listed in LOVD (p.Ser114X is a distinct mt)


Opinion

Sibylle Mittnacht

“Laurence has modeled the S114L into a crystal structure for the Rb N domain core (Hassler et al. currently unpublished- (info through sibylle.mittnacht@icr.ac.uk)

Predictions are: It will affect the coherence of a conserved surface patch identified by the structure (conserved patch 1). It is likely that the mutation destroys function of this surface - although this function is not known and thus the nature and degree of functional impact can currently not be predicted.”

 Protein SIFT (11_11_10)
 User Input	ENSP	Pos	Ref	Subst	Prediction	SIFT Score	Median Information Content	# Seqs
 ENSP00000267163,S114L   	ENSP00000267163   	114	S	L	TOLERATED	0.07	2.89	45
 
genetics/variants/ser114leu.txt · Last modified: 2011/11/10 14:23 by dietmar
 
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