ITIH5L W1041S - GET-Evidence

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

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Curation:
Currentness:

ITIH5L W1041S

(ITIH5L Trp1041Ser)


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 @ chrX:54781530: 6.4% (564/8761) in EVS
  • G @ chrX:54798254: 4.3% (4/92) in GET-Evidence
  • Frequency shown in summary reports: 6.4% (564/8761)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chrX:54781530

 

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chrX:54798255

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chrX:54798255

 

Other external references
 

    dbSNP
  • rs17316491
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.986 (probably damaging)
    Web search results (6 hits -- see all)
  • ITIH5L Gene - GeneCards | ITH5L Protein | ITH5L Antibody
    EntrezGene summary for ITIH5L: The protein encoded by this gene ... ITIH5L Gene in genomic location: bands according to Ensembl, locations according to (and ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5L
  • Inter-alpha-trypsin inhibitor heavy chain H5-like protein ...
    ITIH5L. ORF Names: UNQ6369/PRO21074. Organism. Homo sapiens (Human) ... W S: dbSNP rs17316491. VAR_032044. Natural variant. 1170. 1. G A: dbSNP rs35355718. ...
    www.uniprot.org/uniprot/Q6UXX5
  • Type III 95%
    ... Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... seq Added kinase gruop(s) Added kinase family(s) Removed kinase gruop ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • UniProt: ITH5L_HUMAN
    DT 05-JUL-2004, sequence version 1. DT 02-MAR-2010, entry version 52. DE RecName: ... Flags: Precursor; GN Name=ITIH5L; ORFNames=UNQ6369/PRO21074; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot+ITH5L_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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