MSR1 P275A - GET-Evidence

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

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MSR1 P275A

(MSR1 Pro275Ala)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr8:16012648: 7.0% (758/10756) in EVS
  • C @ chr8:16057018: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (758/10756)







GS18501 - var-GS18501-1100-36-ASM
het C @ chr8:16057019


GS18537 - var-GS18537-1100-36-ASM
het C @ chr8:16057019


GS18942 - var-GS18942-1100-36-ASM
hom C @ chr8:16057019


GS18947 - var-GS18947-1100-36-ASM
het C @ chr8:16057019


GS19669 - var-GS19669-1100-36-ASM
het C @ chr8:16057019


GS20509 - var-GS20509-1100-36-ASM
het C @ chr8:16057019


Other external references

  • rs3747531
  • Score: 0.999 (probably damaging)
    Web search results (95 hits -- see all)
  • MSR1 variants and the risks of prostate cancer and benign ...
    Two MSR1 markers, including P275A and INDEL7, were associated with significantly ... of the MSR1 protein, the associations between MSR1 P275A and INDEL7 ...
  • MSR1 variants and the risks of prostate cancer and benign ...
    11 (P275A, rs3747531, a missense change in exon 6), variant 12 (INDEL7, rs3036811, a 3 bp ... nature of the MSR1 protein, the associations between MSR1 P275A ...
  • Germ-line alterations in MSR1 gene and prostate cancer risk.
    Mutations in MSR1 have been reported to associate with prostate ... MSR1 sequence variants were identified. The carrier frequencies of the R293X, P275A, and ...
  • MSR1 variants and the risks of prostate cancer and benign ...
    The role of MSR1 in prostate cancer development among Asians, for whom rates of ... MSR1 variants and prostate cancer risk, we sequenced all the 11 MSR1 ...
  • Macrophage receptor gene variant influences COPD susceptibility
    To evaluate the role of polymorphisms in MSR1 in COPD, a team led by Jill Ohar, ... The MSR1 coding SNP, P275A, was significantly associated with susceptibility to ...
  • doi:10.1086/345802
    five common variants of MSR1 in 301 patients with non-HPC who underwent prostate ... of Pro275Ala could affect the func- tion of the MSR1 protein, because ...
  • PCPGM: Genotyping
    MSR1. rs3036811. INDEL7. TTA/* MSR1. rs3747531. P275A. C-->G. MSR1. rs433235. PRO3. A-->G. MTHFR. rs1801133. 677. C-->T. MTHFR. rs1801131. 1298. A-->C. MTRR. rs2287780. R415C. C-->T ...
  • Wake Forest-Johns Hopkins Team Discovers Prostate Cancer Gene
    Scientists in the Center for Human Genomics at Wake Forest University School of Medicine and Johns Hopkins Medical Institutions have discovered a gene that "may ...
  • [Frontiers in Bioscience 11, 1388-1413, May 1, 2006]
    Science, global weekly of science ... MSR1. PRO3, P275A, D174Y, IVS5-59, R293X , IVS7delTTA, IVS5-57. Xu et al, 2003 (107), N=301 cases, U.S. Caucasians. Positive association ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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