IMPORTANT NOTICE © -The material on this site cannot be copied or used without the written permission of the HUGO Mutation Database Initiative

NOTE: Information is not able to be entered in the fields as this is text only. This will be an interactive form when it is operational.

NOTES ON ENTRY FORM

1. The form is long. However, as much information can be derived from the sequence around the part of the mutation and the change itself, the 50-51 bp sequence of the area of wild type sequence and the analogous mutant sequence, theoretically this is all the information required together with the detection method (in C). Nevertheless, there is a requirement for the information to be useful for the submitter to be identified (all of A) or reference where published, General Information (B), the quality of data and evidence for its reported effect (F).

2. The derivation of other entries can be done by the "Mutation Checker" or other program or manually by the curator or the submitter but trivial names are useful for biochemists (in E).

3. Because of the above, those questions believed to be a necessary minimum are highlighted in red (Derived from Scriver et al Hu Mut.13:344-350) which are included in 1 above or blue thought to be important and/or included in Cotton & Scriver Hu.Mut.12:1-3.

4. Naturally as this has been developed as a general form it can be abbreviated when used by LSDB, e.g. omit B.

5. Mitochondrial genes need an entry "% heteroplasmy and tissue studied".

6. Much more could be put on drop down lists in a final form so it will look much less of a problem than it appears on a printed sheet.

ALLELE VARIANT ENTRY FORM

A.D. Auerbach, O. Horaitis, H. Lehvaslaiho, R.G.H. Cotton and 38 members of the HUGO Mutation Database Initiative (see list at end)

SUMMARY (e.g. human phenylalanine hydroxylase C1459C->T, P405T, causing PKU).

A. SUBMITTED BY

Family name:_____
Given name:____
Address (List-Dept.,City, State, Country, Postcode-fields to fill in):_____
Email:______
Fax:_____
URL of institution:_______
Date (auto recorded):_________________
Unpublished (Y/N) OR Citation (e.g. Nature 352:77, 1999):_______, Medline No.:________

B. GENERAL INFORMATION-

Species:
Gene/Locus name:__________
 HUGO-approved Gene symbol (Link to site explaining what these are):______
Chromosome Region (________+ unknown)
Category:
Phenotype (if any):_____OMIM No.___________

C. DNA-

Reference Sequence Accession No.:
 Tissue analysed:___________(blood, muscle, tumour, etc.)
Type of DNA analysed

Systematic name of variation (to follow nomenclature guide by Antonarakis et al 1988 {link to this}) e.g. 1425G->A :_____
 Aliases/Published name:_____
Unique ID provided by database:___________
Base change type: Location Exon/Intron no:_____
1st Affected Nucleotide (or starting nt):_____
Last Affected Nucleotide:_____
No. bases inserted:___________
No. bases deleted:____________
25 or more nucleotides 5' of variation site:_____________
Reference subsequence:_________________
Variant subsequence:____________________
25 or more nucleotides 3' of variation site:_______________
 Detection method

Detection conditions (List-sequence of primers, PCR and electrophoresis conditions, etc.):____________
Extent of DNA analyzed: (% coding seq., codon 2, 5'UTR, etc.):______

D. RNA EFFECT

RNA nucleotide change is identical to DNA mutation Yes/No if No then
Sequence range affected____________to ________________

Reference mRNA ________, or No Reference__________
1st Affected Nucleotide (or starting nt):_____
Last Affected Nucleotide:_____
Original codon:_____
New codon:_____
Effect on RNA

E. PROTEIN EFFECT

Reference protein_____________ or No reference_________
NAME:
Trivial (protein) name of mutation (to follow nomenclature guide by Antonarakis et al 1988 {link to this}) e.g. P405G:_________
 Effect on Protein (if any)
Wild type amino acid(s):_________
Mutated amino acid(s)(including new extension seq(s) ):_______
1st Residue No. affected:_________
Last Residue No. affected:_________
Position of any new termination codon:___________
Activity change in protein measured Y/N, Result_____________

F. QUALITY ASSURANCE CHECKLIST FOR MUTATION/POLYMORPHISM

(LIST-Yes-Y/No-N/Not checked-NC/Not applicable)

Mutation/polymorphism found on repeat PCR sample (not an artifact) Y/N/NC/NA:_____
Mutation segregates with trait Y/N/NC/NA:_____
Trait :(_______ + unknown + NA)
Parents, grandparents, siblings, or other family members checked for carrier status Y/N/NC/NA:_____Result if tested
Other mutation found on same allele (in cis) Y/N/NC/NA:_____
Amino acid in human seq. is conserved in ______out of ________other species for which seq is known (date)
Expression analysis confirms phenotypic effect Y/N/NC/NA:_____
50 (or other_________) normal chromosomes tested Y/N/NC/NA:_____
Result: e.g. NIL for disease causing & ratio of alleles (_____________) for harmless polymorphisms

G. INFORMATION IN OTHER DATABASES

Mutation in OMIM (link to this): No/Yes Accession No._____
Mutation in HGMD (link to this): No/Yes Accession No._____
Mutation in dbSNP (link to this): No/Yes Accession No._____
Mutation in GDB (link to this): No/Yes Accession No._____
Mutation in other database: No/Yes Accession No._____ Name of database_______

H. DIAGNOSTIC DETECTION

Diagnostic method developed (after mutation found): Y/N_____
Diagnostic method technology (ASO, RFLP etc.): (_________ or NA)
Ability to perform tests for others: (list tests- Y/N/NA):_____

I. OTHER ANCILLARY DATA

Haplotype association: (________ + unknown)
Population association: Freq. Mutation/Wild type alleles_____________
Geographic Location: (________ + unknown)
Ethnic association: (________ + unknown)
Linguistic association: (________ + unknown)
Religious association: (________ + unknown)

J. PATIENT/SUBJECT AND PHENOTYPE

Coded Patient/Subject Identifier (if applicable):_____
Sex:
Phenotype Occurrence

Phenotype (multiple selection allowed) (List possible phenotypes & Other):_____
Inheritance-