Difference between revisions of "Maple Syrup Urine Disease 2012"

From Bioinformatikpedia
(→‎Mutated sequence)
(→‎Mutated sequence)
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>sp|P21953|ODBB_HUMAN 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial OS=Homo sapiens GN=BCKDHB PE=1 SV=2
 +
>sp|P21953|ODBB_HUMAN 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial OS=Homo sapiens GN=BCKDHB PE=1 SV=2
−
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
 +
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
−
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGL<font color=red>|</font>DKYGKDR<font color=red>G</font>F
 +
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGL<font color=red>|</font>DKYGKDR<font color=red>G</font>F
−
NT<font color=red>L</font>LCEQGI<font color=red>G</font>GFGI<font color=red>R</font>I<font color=red>V</font>VTGATAIAEIQFADYIFPAFD<font color=red>K</font>IVN<font color=red>|</font>AAKY<font color=red>H/C</font>YRS<font color=red>W</font>DLF<font color=red>Y</font>CGS
 +
NT<font color=red>L</font>LCEQGI<font color=red>G</font>GFGI<font color=red>R</font>I<font color=red>V</font>VTGATAIAEIQFADYIFPAFD<font color=red>K</font>IVN<font color=red>|</font>AAKY<font color=red>H/C</font>YRS<font color=red>W</font>DLF<font color=red>Y</font>CGS
−
LTI<font color=red>P</font>SPWGC<font color=red>D</font>GHGALYHSQS<font color=red>A</font>EAFFA<font color=red>R/Y</font>CPGIKVV<font color=red>K</font>P<font color=red>G</font>SPFQA<font color=red>R</font>GLLLSCIEDKNPCIFF
 +
LTI<font color=red>P</font>SPWGC<font color=red>D</font>GHGALYHSQS<font color=red>A</font>EAFFA<font color=red>R/Y</font>CPGIKVV<font color=red>K</font>P<font color=red>G</font>SPFQA<font color=red>R</font>GLLLSCIEDKNPCIFF
−
EP<font color=red>|</font>IL<font color=red>H</font>RAAAEE<font color=red>A</font>PIEPYNIPLSQAEVI<font color=red>|</font>EGSDVTLVA<font color=red>C</font><font color=red>S</font>TQVH<font color=red>A</font>I<font color=red>|</font>EVASMAKEKLGVS
 +
EP<font color=red>|</font>IL<font color=red>H</font>RAAAEE<font color=red>A</font>PIEPYNIPLSQAEVI<font color=red>|</font>EGSDVTLVA<font color=red>C</font><font color=red>S</font>TQVH<font color=red>A</font>I<font color=red>|</font>EVASMAKEKLGVS
−
CEVIDLRTIIPWDVDTICKSVIKTG<font color=red>|</font>LLISHEAPLTGGFA<font color=red>L</font><font color=red>K</font>ISSTVQEECFLNLEA<font color=red>L</font>IS
 +
CEVIDLRTIIPWDVDTICKSVIKTG<font color=red>|</font>LLISHEAPLTGGFA<font color=red>L</font><font color=red>K</font>ISSTVQEECFLNLEA<font color=red>L</font>IS
−
RVCGYDTPFPHIF<font color=red>|</font>PFYIPDKWKC<font color=red>|</font>DALRKMINY
 +
RVCGYDTPFPHIF<font color=red>|</font>PFYIPDKWKC<font color=red>|</font>DALRKMINY
   
 
* Nonsense/missense mutatet sequence DBT (leading to type 1)
  
* Nonsense/missense mutatet sequence DBT (leading to type 1)
   
   
−
>sp|P11182|ODB2_HUMAN Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial OS=Homo sapiens GN=DBT PE=1 SV=3
 +
>sp|P11182|ODB2_HUMAN Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial OS=Homo sapiens GN=DBT PE=1 SV=3
−
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAAL
 +
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAAL
−
RGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDS<font color=red>M</font>CEVQSDKASVTITSRYDGVIKK
 +
RGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDS<font color=red>M</font>CEVQSDKASVTITSRYDGVIKK
−
LYYNLDDIAYV<font color=red>R</font>KPLVD<font color=red>T</font>ETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRL
 +
LYYNLDDIAYV<font color=red>R</font>KPLVD<font color=red>T</font>ETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRL
−
AMENNIKLSEVVG<font color=red>|</font>GKDGRILKEDILNYLEKQTGAILPPSPKV<font color=red>|</font>IMPPPPKPKDMTVPIL
 +
AMENNIKLSEVVG<font color=red>|</font>GKDGRILKEDILNYLEKQTGAILPPSPKV<font color=red>|</font>IMPPPPKPKDMTVPIL
−
VSKPPVFTGKDKTEPIKGFQKA<font color=red>T</font>VKTMSAALKIPH<font color=red>C</font>GYCDEIDLTELVKLREELKPIAFA
 +
VSKPPVFTGKDKTEPIKGFQKA<font color=red>T</font>VKTMSAALKIPH<font color=red>C</font>GYCDEIDLTELVKLREELKPIAFA
−
RGIKLS<font color=red>S</font>MPFFL<font color=red>N</font>AASLGLLQFPILNASVDENCQNITYKAS<font color=red>N</font>NIGIAMDTEQGLIVPNVK
 +
RGIKLS<font color=red>S</font>MPFFL<font color=red>N</font>AASLGLLQFPILNASVDENCQNITYKAS<font color=red>N</font>NIGIAMDTEQGLIVPNVK
−
NVQICSIFDIATELNRLQKLGSV<font color=red>S</font>QLSTT<font color=red>G</font>LTGGTFT<font color=red>P</font>SNIGSIGGTFAK<font color=red>Q</font>VIMPPEVAI
 +
NVQICSIFDIATELNRLQKLGSV<font color=red>S</font>QLSTT<font color=red>G</font>LTGGTFT<font color=red>P</font>SNIGSIGGTFAK<font color=red>Q</font>VIMPPEVAI
−
GALGSIKA<font color=red>N</font>PRFNQKGEVYKAQIMN<font color=red>M</font>SWS<font color=red>D</font>D<font color=red>R</font>RVIDGATMS<font color=red>P</font>FSNLWKSYLENPAFMLLD
 +
GALGSIKA<font color=red>N</font>PRFNQKGEVYKAQIMN<font color=red>M</font>SWS<font color=red>D</font>D<font color=red>R</font>RVIDGATMS<font color=red>P</font>FSNLWKSYLENPAFMLLD
−
LK
 +
LK
   
 
* Nonsense/missense mutatet sequence DBT (leading to type 2)
  
* Nonsense/missense mutatet sequence DBT (leading to type 2)
   
−
* Nonsense/missense mutatet sequence DLT (leading to type 2)
 +
* Nonsense/missense mutatet sequence DLD
   
−
>sp|P09622|DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial OS=Homo sapiens GN=DLD PE=1 SV=2
 +
>sp|P09622|DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial OS=Homo sapiens GN=DLD PE=1 SV=2
−
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
 +
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
−
AQLGFKTVCIE<font color=red>E</font>NETLGGTCLNVGCIPSKALLNNSHYYHMAHG<font color=red>T</font>DFASRGIEMSEVRLNL
 +
AQLGFKTVCIE<font color=red>E</font>NETLGGTCLNVGCIPSKALLNNSHYYHMAHG<font color=red>T</font>DFASRGIEMSEVRLNL
−
DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
 +
DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
−
IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVEL<font color=red>C</font>SVWQRLGADVT
 +
IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVEL<font color=red>C</font>SVWQRLGADVT
−
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
 +
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
−
AEVITCDVLLVCIGRRPFTKNLGLEELGIE<font color=red>V</font>DPRGRIPVNTRFQTKIPNIYAIGDVVAGP
 +
AEVITCDVLLVCIGRRPFTKNLGLEELGIE<font color=red>V</font>DPRGRIPVNTRFQTKIPNIYAIGDVVAGP
−
MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
 +
MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
−
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
 +
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
−
ARVCHAH<font color=red>L</font>TLSEAF<font color=red>G</font>EANLAASFGKSINF
 +
ARVCHAH<font color=red>L</font>TLSEAF<font color=red>G</font>EANLAASFGKSINF

Revision as of 16:05, 20 April 2012

Summary

place summary in here

Phenotype

Biochemical disease mechanism

MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits:

subunit name chromosomal gene location MSUD-type
BCKDHA Branched chain keto acid dehydrogenase E1, alpha polypeptide 19q13.1-q13.2 1a
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 6q14.1 1b
DBT Dihydrolipoamide branched chain transacylase E2 1p31 2
DLD dihydrolipoamide dehydrogenase 7q31-q32 3

Kegg-pathway-marked.jpg

Mutations

Reference sequence

Reference sequence (uniprot)

Mutated sequence

  • Nonsense/missense mutatet sequence BCKDHA
>sp|P12694|ODBA_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial OS=Homo sapiens GN=BCKDHA PE=1 SV=2
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNMNLVFGQYWEAGVLMNQDYPLELFMAQCYG
NISDLGKGRKMPVHYGCKERHFVTISSPLATQTPQVVGAAYAAKRANANRVVICYFGEGA
ASEGDAHASFNFTATLEYPIIFFWWNSGYAISTPTSEQYRGDDIPA|GPRYGIMSIC/HVD
SNAVFAVYNARKEA|RRAVAENQPFLTKTMTYRIGHHSTSDDSSAYHSVDEVNYWDKQDH
PISWLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLCSDMH/CQEMPA
QLRKQQESLARHLQTYGEHNPLDHFDK
  • Nonsense/missense mutatet sequence BCKDHB


>sp|P21953|ODBB_HUMAN 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial OS=Homo sapiens GN=BCKDHB PE=1 SV=2
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGL|DKYGKDRGF
NTLLCEQGIGGFGIRIVVTGATAIAEIQFADYIFPAFDKIVN|AAKYH/CYRSWDLFYCGS
LTIPSPWGCDGHGALYHSQSAEAFFAR/YCPGIKVVKPGSPFQARGLLLSCIEDKNPCIFF
EP|ILHRAAAEEAPIEPYNIPLSQAEVI|EGSDVTLVACSTQVHAI|EVASMAKEKLGVS
CEVIDLRTIIPWDVDTICKSVIKTG|LLISHEAPLTGGFALKISSTVQEECFLNLEALIS
RVCGYDTPFPHIF|PFYIPDKWKC|DALRKMINY
  • Nonsense/missense mutatet sequence DBT (leading to type 1)


>sp|P11182|ODB2_HUMAN Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial OS=Homo sapiens GN=DBT PE=1 SV=3
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAAL
RGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSMCEVQSDKASVTITSRYDGVIKK
LYYNLDDIAYVRKPLVDTETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRL
AMENNIKLSEVVG|GKDGRILKEDILNYLEKQTGAILPPSPKV|IMPPPPKPKDMTVPIL
VSKPPVFTGKDKTEPIKGFQKATVKTMSAALKIPHCGYCDEIDLTELVKLREELKPIAFA
RGIKLSSMPFFLNAASLGLLQFPILNASVDENCQNITYKASNNIGIAMDTEQGLIVPNVK
NVQICSIFDIATELNRLQKLGSVSQLSTTGLTGGTFTPSNIGSIGGTFAKQVIMPPEVAI
GALGSIKANPRFNQKGEVYKAQIMNMSWSDDRRVIDGATMSPFSNLWKSYLENPAFMLLD
LK
  • Nonsense/missense mutatet sequence DBT (leading to type 2)
  • Nonsense/missense mutatet sequence DLD
>sp|P09622|DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial OS=Homo sapiens GN=DLD PE=1 SV=2
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
AQLGFKTVCIEENETLGGTCLNVGCIPSKALLNNSHYYHMAHGTDFASRGIEMSEVRLNL
DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELCSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
AEVITCDVLLVCIGRRPFTKNLGLEELGIEVDPRGRIPVNTRFQTKIPNIYAIGDVVAGP
MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHLTLSEAFGEANLAASFGKSINF
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