The UMD-MYO7A mutations database
Record ID: 369

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.2656_2664delp.Ala886_Lys888delHeterozygousMutation

wt codonwt aamutant codonmutant aamutational eventmutation type
GCCAladel9aInFIn frame delInF

StructureKey Residue (HCD)Pyrimidin doubletCpG
Coiled coil 

Mutation impact


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

Patient and sample data


Sample IDPatient statusGenderTransmissionGeographic origin
JP0100100032RelativeUnknownJAPAN

Phenotypic groupDisease
nonsyndromic dominant Deafness 

Clinical data


Symptom

Reference


Reference IDPubMed IDReference
59354784
Liu - Brown 1997