LRP2 K4094E - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

LRP2 K4094E

(LRP2 Lys4094Glu)


Short summary

Associated with hearing loss with cisplatin.

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • C @ chr2:170010985: 79.9% (8595/10758) in EVS
  • C @ chr2:169719230: 74.2% (95/128) in GET-Evidence
  • Frequency shown in summary reports: 79.9% (8595/10758)

Publications
 

Riedemann L, Lanvers C, Deuster D, Peters U, Boos J, Jürgens H, am Zehnhoff-Dinnesen A. Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. Pharmacogenomics J. 2008 Feb;8(1):23-8. Epub 2007 Apr 24. PubMed PMID: 17457342.

 

Beydoun MA, Ding EL, Beydoun HA, Tanaka T, Ferrucci L, Zonderman AB. Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults. Am J Clin Nutr. 2012 Jan;95(1):163-78. Epub 2011 Dec 14. PubMed PMID: 22170372; PubMed Central PMCID: PMC3238459.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr2:170010985

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr2:170010985

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr2:170010985

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:170010985

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr2:170010985

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr2:170010985

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr2:170010985

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr2:170010985

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr2:170010985

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr2:170010985

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr2:170010985

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr2:170010985

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr2:170010985

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr2:170010985

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr2:170010985

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:170010985

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr2:170010985

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr2:170010985

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr2:170010985

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr2:170010985

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr2:170010985

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr2:170010985

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr2:170010985

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr2:170010985

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr2:170010985

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr2:170010985

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr2:170010985

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr2:170010985

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr2:170010985

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr2:170010985

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr2:170010985

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr2:169719231

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr2:169719231

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr2:169719231

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr2:169719231

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:169719231

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr2:169719231

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:169719231

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr2:169719231

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr2:169719231

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr2:169719231

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr2:169719231

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr2:169719231

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr2:169719231

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr2:169719231

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr2:169719231

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:169719231

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr2:169719231

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr2:169719231

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr2:169719231

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr2:169719231

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr2:169719231

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr2:169719231

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr2:169719231

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr2:169719231

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr2:169719231

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr2:169719231

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr2:169719231

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr2:169719231

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr2:169719231

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr2:169719231

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr2:169719231

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr2:169719231

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr2:169719231

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr2:169719231

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr2:169719231

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr2:169719231

 

Other external references
 

    dbSNP
  • rs2075252
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [nephrotoxicity; Ototoxicity]
    [cisplatin]
    A study on 50 subjects (25 patients who developed a distinct hearing loss during cisplatin therapy and in 25 patients without hearing impairment after cisplatin therapy)observed a higher frequency of the A-allele of rs2075252 in the LRP2 in the group with hearing impairment than in the group with normal hearing after cisplatin therapy.
    www.ncbi.nlm.nih.gov/pubmed/17457342
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (11 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 ... cancer sample, somatic mutation 16959974 LRP2 P98164 K4094E 4102 VAR_005423 JakA (0.554) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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