MECP2 Mutation Database

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1
MECP2 Mutation Database - Data Entry Form
(modified from the HUGO Mutation Database Initiative form at
http://ariel.ucs.unimelb.edu.au:80/~cotton/entry.htm)
Submitter Details
Title:
Family name:
Given name:
Address:
Dept:
Institution:
Street Address:
City:
State:
Postcode/Zipcode:
Country:
Email address:
Fax number:
Role: (eg clinician, lab scientist)
Unpublished
yes

no

(if published please provide citation)
Citation :
General Information
Unique ID provided by database:
Mutation associated with disease

polymorphism not causing disease
Tissue analysed:

don't know 
(blood, muscle, etc.)
Systematic name of variation (eg C473T):
Base change type:
base substitution 
duplication
base(s) deletion

unknown

base(s) insertion

complex


Location:
Exon

intron

5' UTR

3' UTR

Not within a known transcription unit
Mutation Data
Exon/intron no:
For missense mutations
original nucleotide
For insertions or deletions
First affected nucleotide (or starting nt):
No. bases inserted or deleted:
25 or more nucleotides 5' of variation site:
Reference subsequence:
Variant subsequence:
25 or more nucleotides 3' of variation site:
Detection method:
mutated nucleotide
Last affected nucleotide:

MECP Mutation Entry Form
Direct sequencing 
SSCP
EMC
DHPLC

2


PTT



DGGE
Heteroduplex analysis
CCM
other


Detection conditions:
5’ primer:
3’ primer:
PCR reagents (including buffer, MgCl2 concentration, dNTPs concentration, primer concentrations, amount of
template used):
PCR conditions:
Electrophoresis conditions:
Extent of DNA analyzed: (% coding seq., codon 2, 5'UTR, etc.):
Effect on RNA
Promoter activity
Poly A addition


splicing change
no effect

RNA stability

unknown

truncating deletion


Effect on Protein
Amino acid substitution
truncating insertion
no effect





stop codon
in-frame insertion
unknown

involves MBD

more than one change
In-frame deletion
involves TRD

Wild type amino acid(s):
Mutated amino acid(s) (including new extension sequence(s)):
First residue No. affected:
Last residue No. affected:
Position of any new termination codon:
Quality Assurance Checklist for Mutation/Polymorphism
Mutation/polymorphism found on repeat PCR sample (not an artifact)
Yes

No
 Not Checked 
Not Applicable

Not Applicable

Mutation segregates with trait (see clinical data checklist)
Yes

No
 Not Checked 
Parents, grandparents, siblings, or other family members checked for carrier status
Yes

No
 Not Checked 
Not Applicable

Result if tested
Other mutation found
Yes
on same allele (in cis)
50 (or other
Yes


No
No
) normal chromosomes tested



Not Checked 
Not known


MECP Mutation Entry Form
Yes 
No 
Result: not found in
3

Not Checked
Not Applicable

normal chromosomes
X-inactivation studies performed
Yes
Result
%/
%
Source of DNA for testing
blood

No


other
X-inactivation studies performed in other relatives Yes
Please give results
Not known


Not relevant

please specify

No

Not known

Information in other Databases
Mutation in OMIM
Yes
Mutation in HGMD
Yes
Mutation in other database
Yes



No
No
No



Accession No.
Accession No.
Accession No.
Name of database
Diagnostic Detection Methods
(Has your group developed a diagnostic test for this mutation?)
Yes

No

Diagnostic method technology (ASO, RFLP etc):
Ability to perform tests for others: (list tests): Yes

No

Not Applicable

Proband Clinical Data:

Sex:
male
Phenotype occurrence:
sporadic
Phenotype classification: Rett syndrome
Classical

congenital onset
atypical


female

familial


not known
not known

“preserved speech variant” 
male variant
Not Rett syndrome

not known


(Please elaborate)
Other Comments:
Thank you for completing this form.
“forme fruste” 


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