| Basic information |
| Official Symbol | TTC19 |
| Description | tetratricopeptide repeat domain 19 |
| Other Aliases | 2010204O13Rik |
| Other Description | TPR repeat protein 19; tetratricopeptide repeat protein 19, mitochondrial |
| Mutation type | premature termination 495:L->TGA |
| Location | Scaffold000365_1:1198176 1163855 - |
| Wiki | Wikipedia GeneCard |
| Sequence |
| TTC19 |
CCGGGCCTGCTGCCGCTGATGGCAGCGCTCGCCTGGTTCTCGAGGCCCAC TGAGGCGGATGAGGAGCAGCAGCAGGGAGCGGGCGGGGCAGCCGCCGAGG ACGCGGCGGACGAGGCCGAGGCCGAGATCATCCAGCTGCTGAAGCGAGCC AAGTTGAGCATTATGAAAGATGAGCCAGAAGAGGCTGAGTTACTCTTGCA CGATGCTCTTCGTCTTGCCTATCAGAGTGATAACAAGAAGGCCATCACTT ACACTTATGATTTGATGGCCAACTTAGCATTTATACGGGGTCAACTTGAA AATGCAGAACAGCTTTTTAAAGCAACAATGAGTTACCTGCTTGGAGGGGG CATGAAGCAGGAAGACAATGCAATCATTGAAATCTCCCTAAAGCTGGCCA GTATCTATGCTGCTCAGAACAGACAGGAATTTGCTCTCGCTGGCTATGAA TTCTGCATTTCAACTCTAGAGGAGAAAATTGAAAGAGAAAAGGAGTTACC AGAAGACATTGTGTCAGTGGAAGAGAAAGCCAATACCCACCTCCTGCTGG GCATGTGCCTGGACTCCTGTGCTCGCTACCTTCTGTTCTCCAAGCAGCCA TCACAGGCACAAAGGATGTATGAGAAAGCTCTGCAGATTTCTGAAGAAAT ACAAGGAGAAAGACACCCACAGACCATTGTGCTGATGAGTGACCTGGCCA CGACCCTGGATGCACAGGGCCGCTATGAGGAGGCCCACGTTTACATGCAG AGGGCATCAGATCTGGCCCGACAGATCAACCATCCTGAGCTGCATATGGT GCTCAGCAACCTCGCTGCAGTTCTGATGCACAGGGAACGATACACACAAG CCAAGGAGATCTACCAGGAAGCACTGAAGCAAGCAGAGCTGAGAGGAGAT GAGGTTTCTATACAGCACATCAGGGAAGAGTTGCTGAGCTGTCGAAAAAA AGTAGACCTTTGACCTAACAATATCAAGCTC |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 501 | 175 | 501 | Premature termination 495:L->TGA |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
ProGlyLeuLeuProLeuLeuAla{A} >>>> Target Intron 1 >>>> {la}
|||||||||||||||||| |||{|} 89 bp {||}
ProGlyLeuLeuProLeuMetAla{A}++ ++{la}
CCGGGCCTGCTGCCGCTGATGGCA{G}gt ag{CG}
LeuAlaTrpPheSerArgProAlaAlaAlaGluGluGluGluGlnGlnGlyAlaAspGly
||||||||||||||||||||| ||| |||||| |||||||||||| |||
LeuAlaTrpPheSerArgProThrGluAlaAspGluGluGlnGlnGlnGlyAlaGlyGly
CTCGCCTGGTTCTCGAGGCCCACTGAGGCGGATGAGGAGCAGCAGCAGGGAGCGGGCGGG
AlaAlaAlaGluAspGlyAlaAspGluAlaGluAlaGluIleIleGlnLeuLeuLysArg
||||||||||||||| ||||||||||||||||||||||||||||||||||||||||||
AlaAlaAlaGluAspAlaAlaAspGluAlaGluAlaGluIleIleGlnLeuLeuLysArg
GCAGCCGCCGAGGACGCGGCGGACGAGGCCGAGGCCGAGATCATCCAGCTGCTGAAGCGA
AlaLys >>>> Target Intron 2 >>>> LeuSerIleMetLysAspGluProG
|||||| 2125 bp |||||||||||||||||||||||||
AlaLys++ ++LeuSerIleMetLysAspGluProG
GCCAAGgt agTTGAGCATTATGAAAGATGAGCCAG
luGluAlaGluLeuIleLeuHisAspAlaLeuArgLeuAlaTyrGlnThrAspAsnLysL
|||||||||||||| |||||||||||||||||||||||||||||| ||||||||||
luGluAlaGluLeuLeuLeuHisAspAlaLeuArgLeuAlaTyrGlnSerAspAsnLysL
AAGAGGCTGAGTTACTCTTGCACGATGCTCTTCGTCTTGCCTATCAGAGTGATAACAAGA
ysAlaIleThrTyrThrTyrAspLeu >>>> Target Intron 3 >>>> MetAl
|||||||||||||||||||||||||| 603 bp |||||
ysAlaIleThrTyrThrTyrAspLeu++ ++MetAl
AGGCCATCACTTACACTTATGATTTGgt agATGGC
aAsnLeuAlaPheIleArgGlyGlnLeuGluAsn >>>> Target Intron 4 >>>
|||||||||||||||||||||||||||||||||| 735 bp
aAsnLeuAlaPheIleArgGlyGlnLeuGluAsn++
CAACTTAGCATTTATACGGGGTCAACTTGAAAATgt
> AlaGluGlnLeuPheLysAlaThrMetSerTyrLeuLeuGlyGlyGlyMetLysGln
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
++AlaGluGlnLeuPheLysAlaThrMetSerTyrLeuLeuGlyGlyGlyMetLysGln
agGCAGAACAGCTTTTTAAAGCAACAATGAGTTACCTGCTTGGAGGGGGCATGAAGCAG
>>>> Target Intron 5 >>>> GluAspAsnAlaIleIleGluIleSerLeuL
621 bp |||||||||||||||||||||||||||||||
++ ++GluAspAsnAlaIleIleGluIleSerLeuL
gt agGAAGACAATGCAATCATTGAAATCTCCCTAA
ysLeuAlaSerIleTyrAlaAlaGlnAsn{Ar} >>>> Target Intron 6 >>>>
|||||||||||||||||||||||||||||{||} 3742 bp
ysLeuAlaSerIleTyrAlaAlaGlnAsn{Ar}++
AGCTGGCCAGTATCTATGCTGCTCAGAAC{AG}gt
{g}GlnGluPheAlaValAlaGlyTyrGluPheCysIleSerThrLeuGluGluLysI
{|}|||||||||||| ||||||||||||||||||||||||||||||||||||||||
++{g}GlnGluPheAlaLeuAlaGlyTyrGluPheCysIleSerThrLeuGluGluLysI
ag{A}CAGGAATTTGCTCTCGCTGGCTATGAATTCTGCATTTCAACTCTAGAGGAGAAAA
leGluArgGluLysGluLeuAlaGluAspIleMetSer{V} >>>> Target Intro
|||||||||||||||||||| ||||||||| |||{|} 22111 bp
leGluArgGluLysGluLeuProGluAspIleValSer{V}++
TTGAAAGAGAAAAGGAGTTACCAGAAGACATTGTGTCA{G}gt
n 7 >>>> {al}GluGluLysAlaAsnThrHisLeuLeuLeuGlyMetCysLeuAspA
{||}|||||||||||||||||||||||||||||||||||||||||||||
++{al}GluGluLysAlaAsnThrHisLeuLeuLeuGlyMetCysLeuAspS
ag{TG}GAAGAGAAAGCCAATACCCACCTCCTGCTGGGCATGTGCCTGGACT
laCysAlaArgTyrLeuLeuPheSerLysGlnProSerGlnAlaGlnArgMetTyrGluL
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
erCysAlaArgTyrLeuLeuPheSerLysGlnProSerGlnAlaGlnArgMetTyrGluL
CCTGTGCTCGCTACCTTCTGTTCTCCAAGCAGCCATCACAGGCACAAAGGATGTATGAGA
ysAlaLeuGlnIleSerGluGluIleGlnGlyGluArgHisProGln >>>> Target
||||||||||||||||||||||||||||||||||||||||||||||| 26
ysAlaLeuGlnIleSerGluGluIleGlnGlyGluArgHisProGln++
AAGCTCTGCAGATTTCTGAAGAAATACAAGGAGAAAGACACCCACAGgt
Intron 8 >>>> ThrIleValLeuMetSerAspLeuAlaThrThrLeuAspAlaGl
29 bp ||||||||||||||||||||||||||||||||||||||||||||
++ThrIleValLeuMetSerAspLeuAlaThrThrLeuAspAlaGl
agACCATTGTGCTGATGAGTGACCTGGCCACGACCCTGGATGCACA
nGlyArgPheAspGluAlaTyrIleTyrMetGlnArgAlaSerAspLeuAlaArgGlnIl
||||||| |||||| |||||||||||||||||||||||||||||||||||
nGlyArgTyrGluGluAlaHisValTyrMetGlnArgAlaSerAspLeuAlaArgGlnIl
GGGCCGCTATGAGGAGGCCCACGTTTACATGCAGAGGGCATCAGATCTGGCCCGACAGAT
eAsnHisProGluLeuHisMetValLeuSerAsnLeuAlaAlaValLeuMetHisArg{G
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||{|
eAsnHisProGluLeuHisMetValLeuSerAsnLeuAlaAlaValLeuMetHisArg{G
CAACCATCCTGAGCTGCATATGGTGCTCAGCAACCTCGCTGCAGTTCTGATGCACAGG{G
} >>>> Target Intron 9 >>>> {lu}ArgTyrThrGlnAlaLysGluIleTy
} 686 bp {||}||||||||||||||||||||||||||
}++ ++{lu}ArgTyrThrGlnAlaLysGluIleTy
}gt ag{AA}CGATACACACAAGCCAAGGAGATCTA
rGlnGluAlaLeuLysGlnAlaLysLeuLysLysAspGluIleSerValGlnHisIleAr
|||||||||||||||||||||| ||| |||||| ||| |||||||||||
rGlnGluAlaLeuLysGlnAlaGluLeuArgGlyAspGluValSerIleGlnHisIleAr
CCAGGAAGCACTGAAGCAAGCAGAGCTGAGAGGAGATGAGGTTTCTATACAGCACATCAG
gGluGluLeuAlaGluLeuSerLysLysSerArgProLeuThrAsnSerValLysLeu
|||||||||| |||||| ||| ||||||
gGluGluLeuLeuSerCysArgLysLysValAspLeu***ProAsnAsnIleLysLeu
GGAAGAGTTGCTGAGCTGTCGAAAAAAAGTAGACCTTTGACCTAACAATATCAAGCTC
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