Reference Sequence BCKDHA

Sequence

• Uniprot:

>sp|P12694|ODBA_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial OS=Homo sapiens GN=BCKDHA PE=1 SV=2

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK

Sequence info: [1] The Uniprot sequence is 445 aa long, as is contains the transit peptide sequence from position 1-45.

• PDB:

>1U5B:A|PDBID|CHAIN|SEQUENCE

SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQ
GRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTI
SSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIA
ARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLR
HYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

Sequence info: [2]

Mutated sequence

The following sequence shows the sequence inclusive all point mutations (missense/nonsense) listed in HGMD.

> bckdha 445 aminoacids; Mw=50481.62Da MAVAIAAARVWRLNRGLSQA ALLLLRQPGARGLARSHPPR QQQQFSSLDDKPQFPGASAE FIDKLEFIQPNVISGIPIYR VMDRQGQIINPSEDPHLPKE KVLKLYKSMTLLNTMDRILY ESQRQGRISFYMTNYGEEGT HVGSAAALDNTDLVFGQYRE AGVLMYRDYPLELFMAQCYG NISDLGKGRQMPVHYGCKER HFVTISSPLATQIPQAVGAA YAAKRANANRVVICYFGEGA ASEGDAHAGFNFAATLECPI IFFCRNNGYAISTPTSEQYR GDGIAARGPGYGIMSIRVDG NDVFAVYNATKEARRRAVAE NQPFLIEAMTYRIGHHSTSD DSSAYRSVDEVNYWDKQDHP ISRLRHYLLSQGWWDEEQEK AWRKQSRRKVMEAFEQAERK PKPNPNLLFSDVYQEMPAQL RKQQESLARHLQTYGEHYPL DHFDK*

The following sequence is the reference sequence used by dbSNP. Note that this sequence is longer that 400 amino acids (protein length) and even longer than 445 amino acids (protein plus signal sequence). It contains additional amino acids both at the beginning and the end of the sequence.

LRECRTAEWLLAKMAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQF SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK .DLLSPPPPILSYPER.PHSKGSRGT.QHTTVFPSQLPLKYSAARAAATLHPCSSRLLHCQGTASAAVAEAPSAPSSPVVTVPSPRGWVRAHSGLEAPLGMGWTWQVSLWNLRRCEWPAEVTNKLHLCAWLSTKKKKKK

more about Sequence_Alignments

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