PKLR mutation submission

*Indicates a required field

Submitter details
Name:*
Organisation:*
Department:*
Address:*
Postal/ZIP:*
City, Country:*
Telephone:*
Fax:
E-mail:*
Position of the mutation
Select the location:*	exon intron upstream of first exon downstream of last exon
Exon/intron number:*
Nucleotide number:*
Codon number*:
Select type of mutation:*	Please select type single base substitution deletion insertion deletion/insertion gross deletion gross insertion
or specify other:
Wild-type nucleotide:*
Mutated nucleotide:*
Wild type DNA sequence context*:
Mutant DNA sequence context:*
Number of normal controls that have been tested for the presence of this mutation:
If applicable, please indicate the allelic frequency of the mutation:
Please specify any other mutations present in cis:
Indicate any reference to the literature:
Nature and effect(s) of the mutation
Select the nature of the mutation:*	amino acid substitution premature end of translation in-frame insertion in-frame deletion pre-mRNA processing (splicing) silent unknown
Effect of the mutation on translation:
Indicate the (predicted) effect of the mutation on translation:*
Do you have any experimental evidence or comments regarding the effect of the mutation on protein structure and function?:
Effect of the mutation on pre-mRNA processing
Indicate the (predicted) effect of the mutation on pre-mRNA processing:
Do you have any experimental evidence or comments regarding the effect of the mutation on pre-mRNA processing?:
Effect of the mutation on transcription
Indicate the (predicted) effect of the mutation on (erythroid-specific) transcription of PKLR:
Do you have any experimental evidence or comments regarding the effect of the mutation on transcription?:
Patient details
Specify the ethnic origin of the patient:*
Select the status of the proband:*	heterozygous homozygous compound heterozygous
If applicable, please specify the in trans mutation:
Please specify the patient's clinical phenotype:*
Additional comments
Indicate any additional comments or details:
Submission

It is recommended that you check your data before submitting it!