PITRM1 P969L - 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 P969L

(PITRM1 Pro969Leu)


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

  • A @ chr10:3181107: 0.1% (14/10140) in EVS
  • A @ chr10:3171106: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (14/10140)

Publications
 

Genomes
 

 

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr10:3171107

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:3171107

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr10:3171107

 

Other external references
 

    dbSNP
  • rs2279218
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • 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
  • 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 = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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