The UMD-MYO7A mutations database
Record ID: 567

Mutation description (Allele #2)


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.IVS13-8C>G (c.1555-8C>G)HeterozygousMutation

wt codonwt aamutant codonmutant aamutational eventmutation type
GGCGlyspl-8Spl.C->GTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation(s) on the other allele: c.6025delG

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Impact on splicing
Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
CTGCCCCTCCACTCC
60.4 _
CTGCCCCTCCAGTCC
89.3 _ *
32.4 %

Patient and sample data


Sample IDPatient statusGenderTransmissionGeographic origin
FR0138609240ProbandFemaleFRANCE

Phenotypic groupDisease
TypeI Usher 

Clinical data


Symptom

Reference


Reference IDPubMed IDReference
2516679490
Roux - Claustres 2006