Maple Syrup Urine Disease 2012

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Revision as of 16:03, 20 April 2012 by Kiening (talk | contribs) (→‎Mutated sequence)

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 DLT (leading to type 2)

>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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