| Basic information |
| Official Symbol | ALS2CR12 |
| Description | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 |
| Other Aliases | NA |
| Other Description | amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein |
| Mutation type | premature termination 321:Q->TGA |
| Location | Scaffold000361_2:3461000 3418431 - |
| Wiki | Wikipedia GeneCard |
| Sequence |
| ALS2CR12 |
ATGTACCCTAACCCTCTCATCTACTGCACCTGCTGGGACCCTTGGAACTT GGGGCCACGAAAGCTGATCAAGACTCCTCGGCCACCAAACAAGACTTCCC CAAGAAGATCCAAGCTAACTCCTCTTCTACCAGTTTCAAAAGACTACAAT TACCTCCAATCAACCACAAAACCTGTTGTCACCCCAAAAATGAAAACCCA GCCAGGACAGCAAGAGGAGAGCAATAAATTACCAAATGAAGTGATCAACG TGTCACCTGGCTATAAGCTCATTCGGAATCGGGAGCAGATATCCGTCACC CTGGGAGAGGAAATGTTTGGTGACAAAAAGCAGTTGGAATCAAAGATAAA AGACAAAGTTAAAATGTCCAGGACCAACATCATTTCTGACCTAGAAGAGC AGATCTCAGAGCTGACAGCAATAATAGAACAAATGAACAGGGACCACCAG TCTGCCCAAAAGTTGCTTTCCAATGAAATGGATCTCCACTGTGCTGAGAT GCAGCAGAACTTTGAAAGCAAGAGCAGGGAGCTCAAAGAGGCTCACGAAG CGGAGCTCAGTAAGATGGAGAACGAATATAAAGCCGCCTTGAAAGCAGAG AAGCTGGCCGCCCAAGAGAAGCTAGATGAGATGGGGAAGGAATACAAGTA TCTGAAGAATATGTTTCACATGTATCAGGACAGCATTTATGATGAAATGG AAGATAAGTGGTCAAAGCGAAAGGCAGAATGGGAGAAGGATGAGAAGTTG GAGCGGGAAAAGATTCTTCTACAGCAAAAACATAGGATAACAAAGAAGTT CGAGTTGGAGTCAGAGGAAGAAAAGAAGAGAATAAACGAATCCTACAATG CTGTCTTTGAGAACTTCATCCGAGAAAAGGAGGAGCTCATGAAACAACAT GAAAGTGACACCTTGCAGTTAGAGGAGCTGAGAAAGACCAAAAAGGTGCC CTGGGGAAGAGACTGAAGTAGTAGACAGAGGCTGGATGTCCTGAAACAAT CTCTTATGCAGGTCATAGAGGAGGAGGTACGTGCACAAGCTCTTATGCTA GAATCACTTAACACAAACCTCTACCAAACCCAGATGGAACTCCAGAGAGA GAAAGCCGTCGTAGGGAACATGGAGAAAACGCTCCAGACCAAGCTTGCTG AAGCTGAAGACAAATATAAGTACACCATACAGATCCTGACAGAAGAAAAC ATTCATCTGAGGCAAAAGATAATTGCCAAGAATGAAGAAATTTATGAAGA ACGGTCTGGGAAATTAACCTGTACCACTGTCTATAAAAATGATCCTGACA TTTTAGAAGATGGTAGCAACAAAGGACAAGAA |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 445 | 1 | 444 | Premature termination 321:Q->TGA |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
MetTyrProAsnProLeuIleTyrCysThrCysTrpAspProTrpAsnLeuGlyProArg
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MetTyrProAsnProLeuIleTyrCysThrCysTrpAspProTrpAsnLeuGlyProArg
ATGTACCCTAACCCTCTCATCTACTGCACCTGCTGGGACCCTTGGAACTTGGGGCCACGA
LysLeuIleLysThrProGlnLeuProArgLysAsnSerThrGlySerSer{Ly} >>>
|||||||||||||||||| ||| ||| ||| |||{||}
LysLeuIleLysThrProArgProProAsnLysThrSerProArgArgSer{Ly}++
AAGCTGATCAAGACTCCTCGGCCACCAAACAAGACTTCCCCAAGAAGATCC{AA}gt
> Target Intron 1 >>>> {s}LeuThrProLeuValProAlaProLysAsnHis
782 bp {|}|||||||||||| ||| |||
++{s}LeuThrProLeuLeuProValSerLysAspTyr
ag{G}CTAACTCCTCTTCTACCAGTTTCAAAAGACTAC
AsnTyrLeuGln<->ProThrLysProValValSerPro{Ly} >>>> Target Int
|||||||||||| ||||||||||||||| |||{||} 8813 b
AsnTyrLeuGlnSerThrThrLysProValValThrPro{Ly}++
AATTACCTCCAATCAACCACAAAACCTGTTGTCACCCCA{AA}gt
ron 2 >>>> {s}MetLysIleHisSerAlaArgGlnGluGluThrAsnLysSerPhe
p {|}|||||| ||||||||| ||||||
++{s}MetLysThrGlnProGlyGlnGlnGluGluSerAsnLysLeuPro
ag{A}ATGAAAACCCAGCCAGGACAGCAAGAGGAGAGCAATAAATTACCA
Tyr >>>> Target Intron 3 >>>> GluValIleAsnValSerProGlyTyrG
2181 bp |||||||||||||||||||||||||||
Asn++ ++GluValIleAsnValSerProGlyTyrL
AATgt agGAAGTGATCAACGTGTCACCTGGCTATA
lnLeuValArgAsnArgGluGlnIleSerValThrLeuGlyAspGluMetPheAspArgL
||| ||||||||||||||||||||||||||||||||| ||||||||| |
ysLeuIleArgAsnArgGluGlnIleSerValThrLeuGlyGluGluMetPheGlyAspL
AGCTCATTCGGAATCGGGAGCAGATATCCGTCACCCTGGGAGAGGAAATGTTTGGTGACA
ysLysArgTrpGluSerGluIleProAspLysGlyArgPheSer{Ar} >>>> Targe
||||| |||||| ||| |||||| |||{||} 3
ysLysGlnLeuGluSerLysIleLysAspLysValLysMetSer{Ar}++
AAAAGCAGTTGGAATCAAAGATAAAAGACAAAGTTAAAATGTCC{AG}gt
t Intron 4 >>>> {g}ThrAsnIleIleSerAspLeuGluGluGlnIleSerGluL
071 bp {|}||||||||||||||||||||||||||||||||||||||||
++{g}ThrAsnIleIleSerAspLeuGluGluGlnIleSerGluL
ag{G}ACCAACATCATTTCTGACCTAGAAGAGCAGATCTCAGAGC
euThrAlaIleIleGluGlnMetAsnArgAspHisGlnSerAlaGlnLysLeu >>>>
|||||||||||||||||||||||||||||||||||||||||||||||||||||
euThrAlaIleIleGluGlnMetAsnArgAspHisGlnSerAlaGlnLysLeu++
TGACAGCAATAATAGAACAAATGAACAGGGACCACCAGTCTGCCCAAAAGTTGgt
Target Intron 5 >>>> LeuSerSerGluMetAspLeuArgCysAlaGluMetLy
1897 bp |||||| |||||||||||| ||||||||||||
++LeuSerAsnGluMetAspLeuHisCysAlaGluMetGl
agCTTTCCAATGAAATGGATCTCCACTGTGCTGAGATGCA
sGlnAsnPheGluAsnLysAsn{Ar} >>>> Target Intron 6 >>>> {g}Gl
|||||||||||| ||| {||} 6394 bp {|}||
nGlnAsnPheGluSerLysSer{Ar}++ ++{g}Gl
GCAGAACTTTGAAAGCAAGAGC{AG}gt ag{G}GA
uLeuLysGluAlaHisGluAlaGluLeuSerGluLeuGluAsnAsnTyrLysAlaAlaLe
||||||||||||||||||||||||||||||| |||||| ||||||||||||||
uLeuLysGluAlaHisGluAlaGluLeuSerLysMetGluAsnGluTyrLysAlaAlaLe
GCTCAAAGAGGCTCACGAAGCGGAGCTCAGTAAGATGGAGAACGAATATAAAGCCGCCTT
uLysAlaGluLysLeuAlaAlaGlnGluLysLeu{G} >>>> Target Intron 7
||||||||||||||||||||||||||||||||||{ } 1024 bp
uLysAlaGluLysLeuAlaAlaGlnGluLysLeu{A}++
GAAAGCAGAGAAGCTGGCCGCCCAAGAGAAGCTA{G}gt
>>>> {lu}GluMetGlyLysGluTyrLysTyrLeuLysAsnMetPheArgThrTyrGl
{ }||||||||||||||||||||||||||||||||||||||| |||||
++{sp}GluMetGlyLysGluTyrLysTyrLeuLysAsnMetPheHisMetTyrGl
ag{AT}GAGATGGGGAAGGAATACAAGTATCTGAAGAATATGTTTCACATGTATCA
n >>>> Target Intron 8 >>>> AspSerIleTyrAspGluMetGluGluLys
| 3084 bp |||||||||||||||||||||||| |||
n++ ++AspSerIleTyrAspGluMetGluAspLys
Ggt agGACAGCATTTATGATGAAATGGAAGATAAG
TrpSerLysGlnLysAlaLysTrpLysLysAspGluLysPheGluArgGluAsnIleLeu
||||||||| |||||| ||| |||||||||||| ||||||||| ||||||
TrpSerLysArgLysAlaGluTrpGluLysAspGluLysLeuGluArgGluLysIleLeu
TGGTCAAAGCGAAAGGCAGAATGGGAGAAGGATGAGAAGTTGGAGCGGGAAAAGATTCTT
LeuGlnGln{L} >>>> Target Intron 9 >>>> {ys}LysLysMetThrLys
|||||||||{|} 2994 bp {||} ||||||
LeuGlnGln{L}++ ++{ys}HisArgIleThrLys
CTACAGCAA{A}gt ag{AA}CATAGGATAACAAAG
LysPheGluMetGluSerGlyGluGluAspLysLysIleAsnGluSerCysSerAlaVal
||||||||| |||||| |||||| ||| |||||||||||| ||||||
LysPheGluLeuGluSerGluGluGluLysLysArgIleAsnGluSerTyrAsnAlaVal
AAGTTCGAGTTGGAGTCAGAGGAAGAAAAGAAGAGAATAAACGAATCCTACAATGCTGTC
PheGluAsnPheIleGlnGluLysGlu >>>> Target Intron 10 >>>> Glu
||||||||||||||| ||||||||| 3633 bp |||
PheGluAsnPheIleArgGluLysGlu++ ++Glu
TTTGAGAACTTCATCCGAGAAAAGGAGgt agGAG
LeuLeuLysGlnHisGlnSerAspThrLeuGlnLeuGluGluLeuArgLysThrLysGlu
||| ||||||||| |||||||||||||||||||||||||||||||||||||||
LeuMetLysGlnHisGluSerAspThrLeuGlnLeuGluGluLeuArgLysThrLysLys
CTCATGAAACAACATGAAAGTGACACCTTGCAGTTAGAGGAGCTGAGAAAGACCAAAAAG
>>>> Target Intron 11 >>>> ValProTrpArgArgAspGlnIleAsnArg
5963 bp ||||||||| |||||| |||
++ ++ValProTrpGlyArgAsp***SerSerArg
gt agGTGCCCTGGGGAAGAGACTGAAGTAGTAGA
HisTrpHisAspValLeuGlnGlnLeuLeuLeuMetGlnValMetGlnGluGluLeuHis
||||||||| ||| |||||||||||| ||||||
GlnArgLeuAspValLeuLysGln---SerLeuMetGlnValIleGluGluGluValArg
CAGAGGCTGGATGTCCTGAAACAA---TCTCTTATGCAGGTCATAGAGGAGGAGGTACGT
AlaGlnAlaLeuIleLeuGluSerLeuAsnThrAsnLeuTyrTyrThrGlnLeuGluLeu
|||||||||||| ||||||||||||||||||||||||||| |||||| ||||||
AlaGlnAlaLeuMetLeuGluSerLeuAsnThrAsnLeuTyrGlnThrGlnMetGluLeu
GCACAAGCTCTTATGCTAGAATCACTTAACACAAACCTCTACCAAACCCAGATGGAACTC
GlnLysGlu >>>> Target Intron 12 >>>> LysAlaIleValGlyAsnLeu
||| ||| 140 bp |||||| |||||||||
GlnArgGlu++ ++LysAlaValValGlyAsnMet
CAGAGAGAGgt agAAAGCCGTCGTAGGGAACATG
GluLysMetLeuGlnThrLysPheAlaGluThrGluGluLysTyrLysHisThrIleGln
|||||| |||||||||||| |||||| ||| ||||||||| |||||||||
GluLysThrLeuGlnThrLysLeuAlaGluAlaGluAspLysTyrLysTyrThrIleGln
GAGAAAACGCTCCAGACCAAGCTTGCTGAAGCTGAAGACAAATATAAGTACACCATACAG
IleLeuThrGluGluAsnIleHisLeu{Ly} >>>> Target Intron 13 >>>>
|||||||||||||||||||||||||||{ } 1262 bp
IleLeuThrGluGluAsnIleHisLeu{Ar}++ +
ATCCTGACAGAAGAAAACATTCATCTG{AG}gt a
{s}GlnLysIleIleSerLysAsnGluGluIleCysGluGlyCysSerGlyArgLeuAl
{ }|||||||||||| ||||||||||||||| ||| |||||| |||
+{g}GlnLysIleIleAlaLysAsnGluGluIleTyrGluGluArgSerGlyLysLeuTh
g{G}CAAAAGATAATTGCCAAGAATGAAGAAATTTATGAAGAACGGTCTGGGAAATTAAC
aSerIleThrValSerLysAspAspSerAspThrValGlnAspGlySerLysLysGlyGl
|||||| ||| ||| ||| ||||||||| ||||||||
rCysThrThrValTyrLysAsnAspProAspIleLeuGluAspGlySerAsnLysGlyGl
CTGTACCACTGTCTATAAAAATGATCCTGACATTTTAGAAGATGGTAGCAACAAAGGACA
nGlu
||||
nGlu
AGAA
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