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Results for the Protein: Q5H8C1
215274141

FREM1_HUMAN RecName: Full=FRAS1-related extracellular matrix protein 1; AltName: Full=Protein QBRICK; Flags: Precursor

Known Diseases associated with this Protein:
  BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
  BIFID NOSE, WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (BNAR)
  MANITOBA OCULOTRICHOANAL SYNDROME
  MANITOBA OCULOTRICHOANAL SYNDROME (MOTA)
  TRIGONOCEPHALY 2
  TRIGONOCEPHALY 2 (TRIGNO2)
12
15
6
13
8
Tips:
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Default View:

Calx_beta - smart00237
CLECT_CSPGs - cd03588
CLECT - smart00034
CLECT_tetranectin_li - cd03596
CLECT_NK_receptors_l - cd03593
CLECT_CEL-1_like - cd03589
CLECT_DC-SIGN_like - cd03590
CLECT_REG-1_like - cd03594
CLECT_thrombomodulin - cd03600
CLECT - cd00037
CLECT_1 - cd03602
CLECT_selectins_like - cd03592
Lectin_C - pfam00059


Swiss-Prot Protein: Q5H8C1
Identical to: NP_659403
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CLECT_CSPGscd035888.8e-0620532178
CLECT_CEL-1_likecd035897.5e-0720532179
CLECT_DC-SIGN_likecd035902.4e-0820532177
CLECT_NK_receptors_lcd035932.3e-0720532177
CLECT_REG-1_likecd035945e-0720532177
CLECT_tetranectin_licd035964.1e-0620532177
CLECT_thrombomodulincd036000.0006220602179
CLECTcd000372.6e-2620632177
CLECT_1cd036021.5e-0620632177
CLECT_selectins_likecd035923.8e-0520642177
Lectin_Cpfam000592.2e-1320712177
Calx_betasmart002370.0007517401830
CLECTsmart000341.2e-2620532176

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35870000 Polymorphismp.ALA1212SERN/A
dbSNPrs61732355 Polymorphismp.ARG1489GLNN/A
Swiss-ProtVAR_067916Diseasep.ARG498GLNTrigonocephaly 2 (TRIGNO2)
Swiss-ProtVAR_063422Diseasep.ARG649TRPBifid nose, with or without anorectal and renal anomalies (BNAR)
Swiss-ProtVAR_047324Polymorphismp.ASN1576ILEN/A
dbSNPrs7025814 Polymorphismp.ASP1273GLUN/A
dbSNPrs10961689 Polymorphismp.GLN2143PRON/A
Swiss-ProtVAR_067917Diseasep.GLU1500VALTrigonocephaly 2 (TRIGNO2)
Swiss-ProtVAR_063423Diseasep.GLY1440SERBifid nose, with or without anorectal and renal anomalies (BNAR)
dbSNPrs1353223 Polymorphismp.ILE499VALN/A
Swiss-ProtVAR_066412Diseasep.LEU1324ARGManitoba oculotrichoanal syndrome (MOTA)
dbSNPrs7041710 Polymorphismp.LEU863VALN/A
dbSNPrs7864984 Polymorphismp.MET702VALN/A
dbSNPrs16932300 Polymorphismp.SER1202ARGN/A
dbSNPrs7023244 Polymorphismp.SER803TYRN/A
dbSNPrs41265306 Polymorphismp.THR1474ILEN/A
dbSNPrs75677527 Polymorphismp.THR1415SERN/A
Swiss-ProtVAR_047326Polymorphismp.VAL2174GLYN/A
Swiss-ProtVAR_066413Diseasep.VAL2091ILEManitoba oculotrichoanal syndrome (MOTA)
dbSNPrs2779500 Polymorphismp.VAL439LEUN/A
dbSNPrs10961700 Polymorphismp.VAL1502METN/A
OMIM608944.0009 Diseasep.ARG498GLNTRIGONOCEPHALY 2
OMIM608944.0002 Diseasep.ARG649TRPBIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
OMIM608944.0008 Diseasep.GLU1500VALTRIGONOCEPHALY 2
OMIM608944.0003 Diseasep.GLY1440SERBIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
OMIM608944.0006 Diseasep.LEU1324ARGMANITOBA OCULOTRICHOANAL SYNDROME
OMIM608944.0007 Diseasep.VAL209ILEMANITOBA OCULOTRICHOANAL SYNDROME



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