Difference between revisions of "Maple Syrup Urine Disease 2012"

From Bioinformatikpedia
(→‎Mutated sequence)
(→‎Mutated sequence)
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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
  +
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE60
−
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
  
  +
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY120
−
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
  
−
ESQR<font color=red>Q</font>GRISFYMTNYGEEGTHVGSAAALDN<font color=red>M</font><font color=red>N</font>LVFGQY
 +
ESQR<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>DYPLELFMAQCYG180
−
<font color=red>W</font>EAGVLM<font color=red>N</font><font color=red>Q</font>DYPLELFMAQCYGNISDLGKGR<font color=red>K</font>
 +
NISDLGKGR<font color=red>K</font>MPVHYGCKERHFVTISSPLATQ<font color=red>T</font>PQ<font color=red>V</font>VGAAYAAKRANANRVVICYFGEGA240
−
MPVHYGCKERHFVTISSPLATQ<font color=red>T</font>PQ<font color=red>V</font>VGAAYAAKRANANRVVICYFGEGAASEGDAHA<font color=red>S</font>
 +
ASEGDAHA<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>VD299
−
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>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>SVDEVNYWDKQDH359
−
<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>
 +
PIS<font color=red>W</font>LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL<font color=red>C</font>SD<font color=red>M</font><font color=red>H/C</font>QEMPA418
  +
QLRKQQESLARHLQTYGEH<font color=red>N</font>PLDHFDK
−
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
  

Revision as of 15:58, 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
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE60
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY120
ESQRQGRISFYMTNYGEEGTHVGSAAALDNMNLVFGQYWEAGVLMNQDYPLELFMAQCYG180
NISDLGKGRKMPVHYGCKERHFVTISSPLATQTPQVVGAAYAAKRANANRVVICYFGEGA240
ASEGDAHASFNFTATLEYPIIFFWWNSGYAISTPTSEQYRGDDIPA|GPRYGIMSIC/HVD299
SNAVFAVYNARKEA|RRAVAENQPFLTKTMTYRIGHHSTSDDSSAYHSVDEVNYWDKQDH359
PISWLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLCSDMH/CQEMPA418
QLRKQQESLARHLQTYGEHNPLDHFDK
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