Mutation submission

According to the HGVS nomenclature, mutations in PROC (Homo sapiens) are referenced using the NCBI sequences NM_000312.4 (mRNA) and NP_000303.1 (protein). For mutations in the promoter region, the sequence provided by UCSC should be used as the reference. The numbering follows the HGVS system, with the adenine (A) of the methionine (ATG) codon assigned as +1, as shown in the table below. For the mutations provided, please refer to the sequence we have supplied for the description.

Nucleotide Numbering

Location nucleotide Genomic reference sequence (NC_000002.12) Coding DNA reference sequence (NM_000312.4)
5’ transcription start g.127418427 c.-87
Exon1 3’ site g.127418492 c.-22
Exon2 5’ site g.127419922 c.-21
A of the ATG start codon g.127419943 c.1
Exon2 3’ side g.127420012 c.70
Exon3 5’ side g.127421283 c.71
Exon3 3’ side g.127421449 c.237
Exon4 5’ side g.127422917 c.238
Exon4 3’ side g.127422941 c.262
Exon5 5’ side g.127423034 c.263
Exon5 3’ side g.127423171 c.400
Exon6 5’ side g.127423274 c.401
Exon6 3’ side g.127423408 c.535
Exon7 5’ side g.127426085 c.536
Exon7 3’ side g.127426227 c.678
Exon8 5’ side g.127427105 c.679
Exon8 3’ side g.127427222 c.796
Exon9 5’ side g.127428357 c.797
G of TAG stop codon g.127428946 c.1386
3’ UTR 3’ site g.127429242 c.1682
Nucleotide numbering using a genomic reference sequence (NC_000002.12, GRCh38.p14) and a coding DNA reference sequence (NM_000312.4). Nucleotide numbering starts at 1; there is no nucleotide 0.
If you need assistance, you can download the example Excel sheet to standardize your descriptions.

Part 1: Mutation Information


Nucleotide number: Please enter the nucleotide number based on the reference Coding DNA sequence (NM_000312.4) provided above.
Genome location: Please specify the gene location as one of the following: Promoter, UTR, Exon1-9, Intron1-8, or NA.
Subdomain: Please specify the subdomain of PROC, which includes Signal peptide, Propeptide, Gla, EGF1, EGF2, Linker, Activation peptide, Serine protease, or NA.
Mutation type: Please include Point, Deletion, Insertion, Duplication, Delins, or NA.
Mutation effect: Please include Missense, Nonsense, Silent, Splice, Frameshift, Inframe, Exon Deletion, Gene Expression, Readthrough Mutation, or NA.

Part 2: Patient Information


Age: Current age of the patient. If not available, enter 'NA'.
Clinical presentation (age): Please specify the patient's clinical manifestations, including thrombotic and non-thrombotic diseases, or indicate if the patient is asymptomatic. 'Age' refers to the patient's age at the time of each episode.
Comments: Anticoagulation therapy, medical history, with other thrombophilia factors, family history, consanguineous marriage, and other factors

Part 3: Reference Information


If the article is unpublished, please indicate with 'NA'.
If the article is unpublished, please indicate with 'NA'.
If the article is unpublished, please indicate with 'NA'.

Part 4: Submitter's Contact Information



If you are submitting multiple variants and wish to submit an electronic spreadsheet, please click on the provided example Excel sheet for reference. You can reach us via email at shenguomin@hrbmu.edu.cn for further details.