Conserved Protein Domain Family
WBS_methylT

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pfam12589: WBS_methylT (This model is not part of the current CDD release)
Methyltransferase involved in Williams-Beuren syndrome
This domain family is found in eukaryotes, and is typically between 72 and 83 amino acids in length. The family is found in association with pfam08241. This family is made up of S-adenosylmethionine-dependent methyltransferases. The proteins are deleted in Williams-Beuren syndrome (WBS), a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS) and a specific cognitive phenotype.
Statistics
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PSSM-Id: 520350
Aligned: 44 rows
Threshold Bit Score: 59.1942
Created: 16-Feb-2025
Updated: 28-Apr-2025
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:
XP_001705075 196 LFSGh------------KPEQLPAALDGDDPTGDTeAQEQIGYSKVRQ---MSNAE--KRRAGGFLkgkkwqqpakfSRE 258
XP_009011016 201 LYTGg------------APQAIPHGLGTEEANQRT-VQQQVVCASKRP---KYKDL--KGQSAKLS-----------HRE 251
XP_002142222 203 LWAGfn----------pNIQDLKPNLTNEDEKQYN----TIRHEPRSRgilKNKGR--RGKDNVRVk----------SKE 256
7_pfamImport   1 -FTGgtlvenqdskkkrKTYLILEMAGAKG--------KSVHIREKKK---ARTFK--KPVANKDLs----------YRD 56 
XP_004365347 200 LFAG-------------VAAEVPKGLDGTEGEDGQ-AGPSMPYSRKDR---DAHFG--KGKGKKAAt---------kSRD 251
XP_004995439 201 LFAG-------------VVGSVPAGKSDMMRDTAS--QSTVAYTRADR---RRQARrkKRAGVK-------------SRE 249
XP_025281595 269 LFSG-------------PSTFMPKPLNDSNESNEE---EEVQESVFTR---ERIPY--RIACRGVVr---------kSRE 318
XP_002115202 200 LFTGq-----------tAAAQLPQGL----DTTFSpIANVVQFTNERF---EFSGS--KNKLAAPAhar------kkSRD 253
XP_011606654 204 LFAG-------------VTGVLPKGLGSETSDRTV--QNQVQFSGQ------RF----RNMKGKSAk---------kGKD 249 torafugu
XP_002365234 297 LWVGgshlp---gqqqqLQQLQAAALGADGP-------SQIESTRRER---QKQPR--RGKSSKATv---------sRRE 352 Toxoplasma gond...
XP_001705075 259 WKLHQVVKARLD-GK-DAKPVSRYSGRRRRG 287
XP_009011016 252 WLLEKKERRKRQ-GR-EVHPDSKYTGRKRAG 280
XP_002142222 257 WILEKKKVQRLK-GH-NVRPDSKYTGRKRAN 285
7_pfamImport  57 WIIRKKAKREEK-GL-EVPRTSKYTGRRR-- 83 
XP_004365347 252 WIADKKERRKRQ-GK-DVRPDSAYSGRSRGP 280
XP_004995439 250 WMMKKKESRRKKyGEnSVKRDSKFSGRKRPT 280
XP_025281595 319 WVLEKKERRRRQ-GK-EVRPDTQYTGRKRKP 347
XP_002115202 254 WILHKKQRRRRQ-GF-EIRADSKYTGRRRKH 282
XP_011606654 250 WILEKKERRRRQ-GR-NVRPDTKYTGRQRRP 278 torafugu
XP_002365234 353 WIEKKKERQRLQ-GK-KVRHQSKYTGRKRKD 381 Toxoplasma gondii ME49
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