Difference between revisions of "Maple Syrup Urine Disease 2012"

From Bioinformatikpedia
(→‎Mutated sequence)
(→‎Mutated sequence)
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MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
  
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
 
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
  
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
−
ESQR<font color=orange>E</font>GRISFYMTNYGEEGTHVGSAAALDN M N LVFGQY W EAGVLM N G DYPLELFMAQCYG
 +
ESQR<font color=red>E</font>GRISFYMTNYGEEGTHVGSAAALDN<font color=red>MN</font>LVFGQY<font color=red>W</font>EAGVLM<font color=red>NG</font>DYPLELFMAQCYG
−
NISDLGKGR K MPVHYGCKERHFVTISSPLATQ T PQ V VGA V YAAKRANANRVVICYFGEGA
 +
NISDLGKGR<font color=red>K</font>MPVHYGCKERHFVTISSPLATQ<font color=red>T</font>PQ<font color=red>V</font>VGA<font color=red>V</font>YAAKRANANRVVICYFGEGA
−
ASEGDAHA S FNF T ATLE Y PIIFF W W N S GYAISTPTSEQYRGD D I P A | GP R YGIMSI C/H VD S
+
ASEGDAHA<font color=red>S</font>FNF<font color=red>T</font>ATLE<font color=red>Y</font>PIIFF<font color=red>WWNS</font>GYAISTPTSEQYRGD<font color=red>DIPA|</font>GP<font color=red>R</font>YGIMSI<font color=red>C/H</font>VD<font color=red>S</font>
−
N A VFAVYNA R KEA | RRAVAENQPFL T K T MTYRIGHHSTSDDSSAY H SVDEVNYWDKQDHP
 +
N<font color=red>A</font>VFAVYNA<font color=red>R</font>KEA<font color=red>|</font>RRAVAENQPFL<font color=red>TKT</font> MTYRIGHHSTSDDSSAY<font color=red>H</font>SVDEVNYWDKQDHP
−
IS W LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL C SD M H/C QEMPAQL
 +
IS<font color=red>W</font>LRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLL<font color=red>C</font>SD<font color=red>MH/C</font>QEMPAQL
−
RKQQESLARHLQTYGEH N PLDHFDK
 +
RKQQESLARHLQTYGEH<font color=red>N</font>PLDHFDK

Revision as of 14:18, 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
ESQREGRISFYMTNYGEEGTHVGSAAALDNMNLVFGQYWEAGVLMNGDYPLELFMAQCYG
NISDLGKGRKMPVHYGCKERHFVTISSPLATQTPQVVGAVYAAKRANANRVVICYFGEGA
ASEGDAHASFNFTATLEYPIIFFWWNSGYAISTPTSEQYRGDDIPA|GPRYGIMSIC/HVDS
NAVFAVYNARKEA|RRAVAENQPFLTKT MTYRIGHHSTSDDSSAYHSVDEVNYWDKQDHP
ISWLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLCSDMH/CQEMPAQL
RKQQESLARHLQTYGEHNPLDHFDK
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