Submit form for new RYR1 mutations

Submitted by

Submitters Name *

Submitters E-Mail *

Submitters Country

Location & Type

Description (e.g. c.1840T>C) *

Select a Region

Exon/Intron Nr. *

Position in cDNA *

Mutation type

Mutation category

confirmed by repeating PCR

Yes

Unknown

DNA Change

Wild-type sequence (e.g. T) *

Mutated sequence (e.g. C) *

Wild-type AA (e.g. Arg) *

Mutated AA (e.g. Leu) *

Frame

Flanking 5' (15 base pairs)

Flanking 3' (15 base pairs)

Gain(+) or loss(-) of restriction site (e.g. RsaI+)

PCR primer forward

PCR primer reverse

DNA Type

n/a

genomic DNA

cDNA

Polypeptide Change

Description (e.g. p.R614RC)

AA Change

Position in protein

Conserved region in protein

Population & Phenotype

Phenotype

Other Phenotype

Population(s) carrying the mutation

If European, please specify

Total number of families

Seggregation Analysis

Allelic frequency

Total number of families

Number of families

Mutation	MHS	MHEh	MHEc	MHN
negative
positive

Number of individuals

Mutation	MHS	MHEh	MHEc	MHN
negative
positive

Functional Analysis

Sytem(s) used

please describe the results

Publication

NCBI pubmed ID's (comma separated):

published/submitted in/to

Who is allowed to see this submission

everybody

EMHG Members

registred users

nobody (please comment)