Conserved Protein Domain Family
Sclerostin

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pfam05463: Sclerostin 
Sclerostin (SOST)
This family contains several mammalian sclerostin (SOST) proteins. SOST is thought to suppress bone formation. Mutations of the SOST gene lead to sclerosteosis, a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
Statistics
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PSSM-Id: 398883
Aligned: 4 rows
Threshold Bit Score: 320.703
Threshold Setting Gi: 123888977
Created: 11-May-2020
Updated: 7-Aug-2020
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:
Q688C5   6 LQCCMLY-FACIFIESCM---------SFKNDATEILYSHVDKNIQ-ESANSSALNQARNGGRHTANSaMDRTNPHQVGC 74  tropical clawed frog
Q9CQN4   6 IHLSLIP-LLCILMRNCL---------AFKNDATEILYSHVVKPVPaHPSSNSTLNQARNGGRHFSSTgLDRNSRVQVGC 75  house mouse
Q99P68   1 MQPSLAPcLICLLVHAAFcavegqgwqAFRNDATEVIPGLGEYPEP-PPENNQTMNRAENGGRPPHHP-YDAKDVSEYSC 78  house mouse
Q1LXE0   6 CEYQLLF-LLCFLMKSCH---------AFKNDATEEFNRHALASAQ-ETPNNASLNRARNGGRRPESR--HQTEQHQVGC 72  zebrafish
Q688C5  75 RELRSTKYISDGQCTSIQPLKELVCAGECLPLPILPNWIGGGYglkYWSRRSSQEWRCVNDKTRTQRIQLQCEDGTT-RT 153 tropical clawed frog
Q9CQN4  76 RELRSTKYISDGQCTSISPLKELVCAGECLPLPVLPNWIGGGYgtkYWSRRSSQEWRCVNDKTRTQRIQLQCQDGST-RT 154 house mouse
Q99P68  79 RELHYTRFLTDGPCRSAKPVTELVCSGQCGPARLLPNAIGRVK----WWRPNGPDFRCIPDRYRAQRVQLLCPGGAApRS 154 house mouse
Q1LXE0  73 RELRSTKYISDGQCTSLNPVKELVCAGECLPTHLLPNWIGGGH---YWSRRDAQEWRCVTDRTRTQRIKLQCQDGTT-RT 148 zebrafish
Q688C5 154 YKVTVVTSCKCKRYTRQHNESSHNYEGASPMKPihslqhhhSHHNRDKKRLIKMSKHIPS 213 tropical clawed frog
Q9CQN4 155 YKITVVTACKCKRYTRQHNESSHNFESVSPAKP--------AQHHRERKRASKSSKHSLS 206 house mouse
Q99P68 155 RKVRLVASCKCKRLTRFHNQSELKDFGPETARPq------kGRKPRPGARGAKANQAELE 208 house mouse
Q1LXE0 149 YKITAVTSCTCKRYTRQNNESSHAPQSHSKDHP----------LQSPKKKKSKNKNSKLT 198 zebrafish
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