Difference between revisions of "Maple Syrup Urine Disease 2012"
From Bioinformatikpedia
(→Mutated sequence) |
(→Mutated sequence) |
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[[Reference sequence (uniprot)]] |
[[Reference sequence (uniprot)]] |
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= Mutated sequence = |
= Mutated sequence = |
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| − | * mutatet sequence BCKDHA |
+ | * Nonsense/missense mutatet sequence BCKDHA |
>sp|P12694|ODBA_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial OS=Homo sapiens GN=BCKDHA PE=1 SV=2 |
>sp|P12694|ODBA_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial OS=Homo sapiens GN=BCKDHA PE=1 SV=2 |
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MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE |
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE |
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FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY |
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY |
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| − | ESQR<font color= |
+ | ESQR<font color=yellow>E</font>GRISFYMTNYGEEGTHVGSAAALDN M N LVFGQY W EAGVLM N G DYPLELFMAQCYG |
NISDLGKGR K MPVHYGCKERHFVTISSPLATQ T PQ V VGA V YAAKRANANRVVICYFGEGA |
NISDLGKGR K MPVHYGCKERHFVTISSPLATQ T PQ V VGA V YAAKRANANRVVICYFGEGA |
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ASEGDAHA S FNF T ATLE Y PIIFF W W N S GYAISTPTSEQYRGD D I P A | GP R YGIMSI C/H VD S |
ASEGDAHA S FNF T ATLE Y PIIFF W W N S GYAISTPTSEQYRGD D I P A | GP R YGIMSI C/H VD S |
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Revision as of 14:11, 20 April 2012
Contents
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 |
Mutations
Reference sequence
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 ESQREGRISFYMTNYGEEGTHVGSAAALDN M N LVFGQY W EAGVLM N G DYPLELFMAQCYG NISDLGKGR K MPVHYGCKERHFVTISSPLATQ T PQ V VGA V YAAKRANANRVVICYFGEGA ASEGDAHA S FNF T ATLE Y PIIFF W W N S GYAISTPTSEQYRGD D I P A | GP R YGIMSI C/H VD S N A VFAVYNA R KEA | RRAVAENQPFL T K T MTYRIGHHSTSDDSSAY H SVDEVNYWDKQDHP IS W LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL C SD M H/C QEMPAQL RKQQESLARHLQTYGEH N PLDHFDK
