PITRM1 Q516H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PITRM1 Q516H

(PITRM1 Gln516His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr10:3197856: 5.2% (535/10316) in EVS
  • G @ chr10:3187855: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 5.2% (535/10316)

Publications
 

Genomes
 

 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr10:3187856

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr10:3187856

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr10:3187856

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr10:3187856

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr10:3187856

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr10:3187856

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr10:3187856

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr10:3187856

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr10:3187856

 

Other external references
 

    dbSNP
  • rs3765101
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • PITRM1 Gene - GeneCards | PREP Protein | PREP Antibody
    PITRM1 Gene in genomic location: bands according to Ensembl, locations according to (and ... PITRM1 for ontologies About GeneDecksing. Antibodies for PITRM1: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ... 10 phase1and2 g174943 rs3765101 3187856 1 C/G no ENSG00000107959 PITRM1. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Presequence protease, mitochondrial precursor - Homo sapiens ...
    Enter your search text here. Enter your search query here. Reset button ... PITRM1. Synonyms: KIAA1104, MP1. Organism. Homo sapiens (Human) [Complete proteome] ...
    www.uniprot.org/uniprot/Q5JRX3
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • UniProt: Q5JRX3
    DT 19-SEP-2006, sequence version 2. DT 20-APR-2010, entry version 56. DE RecName: ... DE Flags: Precursor; GN Name=PITRM1; Synonyms=KIAA1104, MP1; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q5JRX3

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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