Submit Variant

SUBMITTING NEW VARIANTS

Users are encouraged to submit new variants even if they are unpublished, and it is anticipated that this facility will be increasingly used as the Database grows. Each variant in the database is allocated a unique identification based upon intermediate filament type and date of acceptance for publication or for unpublished incorporation into the Database. For variants submitted to the Database but not submitted for publication to a scientific journal, the identifier number will be allocated on the basis of acceptance by a Human Intermediate Filament Database committee. A senior member of staff from each of the collaborating research or clinical groups forms part of a committee to review unpublished variants submitted to the database.

Step 1: Enter User Details

Email
Family Name
Given Name
Institution
Postal Address
Telephone
PubMed ID for published variant
(pls leave blank for unpublished variant)

Step 2: Enter Gene Detail

Gene Name
(Protein Name)
Type of variant
Associated Disease
Population Studied e.g. African-American & Caucasian

Step 3: Enter cDNA Variant

cDNA variant in HGVS nomenclature
Examples:

Substitution: c.467G>A; c.1172-306A>G
Deletion: c.383_385delCCT; c.92delT
Insertion: c.242_243insG; c.638_639insACA
Insertion/Deletion: c.465_466delCCinsAA; c.744delCinsAG
Unknown: c.?
No change: c.=

Step 4: Enter Protein Variant

Protein variant in HGVS nomenclature
Examples:

Substitution: p.Arg156Cys; p.Gly537IlefsX77
Deletion: p.Glu375del; p.Leu161_Asp162del
Insertion: p.Tyr454_His455insHis; p.Glu348_Tyr349insHisLeu
Insertion/Deletion: p.Tyr167delinsTrpLeu; p.Asp155_Arg156delinsGluSer
Unknown: p.?
Silent: p.=

Step 5: Image Verification

Enter the text shown in the image above

Step 6: Enter Comments (Optional)

Comments

Last modified: August 27 2008 16:55:32.

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