Conserved Protein Domain Family
FRG2

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pfam15315: FRG2 
Facioscapulohumeral muscular dystrophy candidate 2
This family of proteins is found in eukaryotes. The family is localized close to the D4Z4 repeats on chromosome 4 and 10 that are associated with the autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). FRG2 are transcriptionally upregulated in FSHD myoblast cultures suggesting involvement in the pathogenesis of FSHD.
Statistics
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PSSM-Id: 464640
Aligned: 6 rows
Threshold Bit Score: 224.738
Created: 26-Mar-2022
Updated: 17-Oct-2022
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
ELW69108      23 GSEPElsPDEeKSSQESELTARHS-ISQSESESSSDEGRSRKRKASSGD-SCQAQpGNyEPGDEDGETLEKKRKPsvgLD 100
Q64ET8        60 GSEPN--PNK-ENSEETKLKAGNS-TAGSEPESSSYRENCRKRKMSSKD-SCQDTaGN-CPEKECSLSLNKKSRS---ST 130 human
ELK06695      60 GLEPE--TDKeENSKETKFKGRKScIAPSEAERCSNRESSRRRKSRSRD-SPRATaGA-SLGEERSVTLEKKTRKv--PD 133
XP_003638901  60 GSEPE--TDE-ENSKETELKRHSS-SSGSELEGCSSWEGSRKRKISSSDsTCDGA-GA-SPADEGSVTPGKKKRRa--SD 131
2_pfamImport   1 GSKPS--PHE-EKSQERKLRGRSS-VARAESESSCDGVSSRKRTISSEDsSHTGT-GS-CV-QELSVTLQKKAKP---SD 70 
XP_012905098  61 GSEPQ--TDE-EHAQEAELKRVGG-ISGPESEGCCSQEGSRKRKIGSSDgTCAGT-GV-SLADKRSVTQGRRTRRt--PD 132 domestic ferret
ELW69108     101 GRSSSEGQPTRGAHSSGPLRAGSGRPNQPRSRSPGGRPPPLRKSLVTSLRTLSEAIYQDMAQVWAQQAHTPLTEEQLAEL 180
Q64ET8       131 AVHNSEIQETCDAHHRGHSRACTGHSKRHRSRALGVQTPSIRKSLVTSVRAMSEAVYQDLAQVWAQQIHSPLTCEQLTLL 210 human
ELK06695     134 AGHSSDCETTPDVCPRRAQRRRTGCSKRPRSRSPGVQPPPLRKCLVTSLRAMSEAIYQNMVRVQNQRVPSQLSGEQLSML 213
XP_003638901 132 HGRSSESQGTAPARPGRRWARGSGRSRRGRHSPRGDRPPPLRKALVTTLRALSEAIYQDVAQVCELQKHSPLTWEEQFGL 211
2_pfamImport  71 DGNDRGIQEAHAEPRRANSRARSGHKRRRRSRSPADHPPPLRKSLVTSLRSLSEAIYEDLARVQAQQAQIPLTQEQLFAL 150
XP_012905098 133 GDRGGESEETAGAGPRRQGARGAGRSGRRRYRSPGNRPPPLRKKLVTAVRALSEAIHQDIAQACEQREHSPLTWEQPSGL 212 domestic ferret
ELW69108     181 AQLRGPLHAAVQTFYAMARQAA-CTFPAEGWF 211
Q64ET8       211 TRLRGPLCAQVQTLYSMATQAA-YVFPAESWL 241 human
ELK06695     214 SQIRERLCAQVQTVYTMATQAA-YVFPAETWL 244
XP_003638901 212 GQLWGPLYSALQTVYTMANQAA-YAFPAESWL 242
2_pfamImport 151 AQLRGPLCSAMQSSYALASQAGsLGLPCPGLA 182
XP_012905098 213 GELWGPLCAALQTVYTMAHQAA-YVFPAESWL 243 domestic ferret
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