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Results for the Protein: Q5K651
71153739

SAMD9_HUMAN RecName: Full=Sterile alpha motif domain-containing protein 9; Short=SAM domain-containing protein 9

Known Diseases associated with this Protein:
  TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC
  TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (NFTC)
2
6
1
6
1
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Default View:

SAM - smart00454
SAM_2 - pfam07647
SAM_1 - pfam00536
- cd00166


Swiss-Prot Protein: Q5K651
Identical to: NP_001180236, NP_060124
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
cd001661.8e-111375
SAM_1pfam005362e-051275
SAM_2pfam076470.000171175
SAMsmart004541.4e-061177

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs117649834 Polymorphismp.ALA454THRN/A
dbSNPrs10239435 Polymorphismp.ASN449SERN/A
dbSNPrs6969691 Polymorphismp.ILE143THRN/A
Swiss-ProtVAR_031529Diseasep.LYS1495GLUTumoral calcinosis, normophosphatemic, familial (NFTC)
dbSNPrs79303965 Polymorphismp.LYS894GLUN/A
dbSNPrs78564070 Polymorphismp.THR479METN/A
dbSNPrs10279499 Polymorphismp.VAL549LEUN/A
OMIM610456.0001 Diseasep.LYS1495GLUTUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC



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