Difference between revisions of "Maple Syrup Urine Disease 2012"
From Bioinformatikpedia
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* Nonsense/missense mutatet sequence BCKDHA |
* Nonsense/missense mutatet sequence BCKDHA |
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| − | >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 |
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQR<font color=red>Q</font>GRISFYMTNYGEEGTHVGSAAALDN<font color=red>M</font><font color=red>N</font>LVFGQY<font color=red>W</font>EAGVLM<font color=red>N</font><font color=red>Q</font>DYPLELFMAQCYGNISDLGKGR<font color=red>K</font>MPVHYGCKERHFVTISSPLATQ<font color=red>T</font>PQ<font color=red>V</font>VGAAYAAKRANANRVVICYFGEGAASEGDAHA<font color=red>S</font>FNF<font color=red>T</font>ATLE<font color=red>Y</font>PIIFF<font color=red>W</font><font color=red>W</font>N<font color=red>S</font>GYAISTPTSEQYRGD<font color=red>D</font>I<font color=red>P</font>A<font color=red>|</font>GP<font color=red>R</font>YGIMSI<font color=red>C/H</font>VD<font color=red>S</font>N<font color=red>A</font>VFAVYNA<font color=red>R</font>KEA<font color=red>|</font>RRAVAENQPFL<font color=red>T</font><font color=red>K</font><font color=red>T</font>MTYRIGHHSTSDDSSAY<font color=red>H</font>SVDEVNYWDKQDHPIS<font color=red>W</font>LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL<font color=red>C</font>SD<font color=red>M</font><font color=red>H/C</font>QEMPAQLRKQQESLARHLQTYGEH<font color=red>N</font>PLDHFDK |
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQR<font color=red>Q</font>GRISFYMTNYGEEGTHVGSAAALDN<font color=red>M</font><font color=red>N</font>LVFGQY<font color=red>W</font>EAGVLM<font color=red>N</font><font color=red>Q</font>DYPLELFMAQCYGNISDLGKGR<font color=red>K</font>MPVHYGCKERHFVTISSPLATQ<font color=red>T</font>PQ<font color=red>V</font>VGAAYAAKRANANRVVICYFGEGAASEGDAHA<font color=red>S</font>FNF<font color=red>T</font>ATLE<font color=red>Y</font>PIIFF<font color=red>W</font><font color=red>W</font>N<font color=red>S</font>GYAISTPTSEQYRGD<font color=red>D</font>I<font color=red>P</font>A<font color=red>|</font>GP<font color=red>R</font>YGIMSI<font color=red>C/H</font>VD<font color=red>S</font>N<font color=red>A</font>VFAVYNA<font color=red>R</font>KEA<font color=red>|</font>RRAVAENQPFL<font color=red>T</font><font color=red>K</font><font color=red>T</font>MTYRIGHHSTSDDSSAY<font color=red>H</font>SVDEVNYWDKQDHPIS<font color=red>W</font>LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL<font color=red>C</font>SD<font color=red>M</font><font color=red>H/C</font>QEMPAQLRKQQESLARHLQTYGEH<font color=red>N</font>PLDHFDK |
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Revision as of 15:53, 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
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNMNLVFGQYWEAGVLMNQDYPLELFMAQCYGNISDLGKGRKMPVHYGCKERHFVTISSPLATQTPQVVGAAYAAKRANANRVVICYFGEGAASEGDAHASFNFTATLEYPIIFFWWNSGYAISTPTSEQYRGDDIPA|GPRYGIMSIC/HVDSNAVFAVYNARKEA|RRAVAENQPFLTKTMTYRIGHHSTSDDSSAYHSVDEVNYWDKQDHPISWLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLCSDMH/CQEMPAQLRKQQESLARHLQTYGEHNPLDHFDK
