Gene information

Basic information

Official Symbol	CKMT1A
Description	creatine kinase, mitochondrial 1A
Other Aliases	CKMT1
Other Description	U-MtCK; acidic-type mitochondrial creatine kinase; creatine kinase U-type, mitochondrial; creatine kinase, mitochondrial 1 (ubiquitous); mia-CK; ubiquitous mitochondrial creatine kinase
Mutation type	Insert and frame-shift 77-78:Y-P^AC
Location	Scaffold141044_1:247085 251862 + ± bp flank
Wiki	Wikipedia GeneCard

Sequence

CKMT1A

ATGGCTGGTTCCTTCTCCCGTCTGCTGTCCGCCCGTCCGGGGCTCAGGCT
CCTGGCTTTGGCCGGAGCTGGGTCTCTAGCGGCTGGGCGCCCGGAACCTG
TACGAGCCGCCAGTGAACGACGGAGGCTGTATCCCCCAAGCCAGACATGG
CTAATTGGACAGCCCTCAGATGACTGCACTAAGTCTAGGCCCCTGTGCCC
TCCCTCCATGGTTACTGGGTACCCCCTCCCCAGCGCTGAGTACCCAGACC
TCCGAAAGCACAACAACTGCATGGCCAGTCACCTGACCCCAGCAGTCTAT
GCTCGGCTCTGCGACAAGACCACACCCACTGGTTGGACGCTAGATCAGTG
TATCCAGACTGGCGTGGACAACCCTGGCCACCCCTTCATCAAGACTGTGG
GCATGGTGGCTGGAGATGAGGAGACCTATGAGGTATTTGCTGACCTGTTT
GATCCTGTGATCCAAGAAAGACACAATGGATATGACCCCAGGACAATGAA
GCATACCACTGACCTGGATGCCAATAAGATCCGTTCTGGCTATTTTGATG
AGAGGTATGTATTGTCCTCAAGAGTCAGAACTGGCCGAAGTATCCGGGGA
CTCAGTCTGCCTCCAGCCTGCACTCGGGCAGAGCGACGAGAGGTGGAACG
TGTGGTGGTGGATGCTTTGAGTGGCCTGAAGGGTGACCTGGCCGGACGTT
ACTATAGGCTCAGTGACATGACAGAAGCTGAGCAGCAGCAGCTTATTGAT
GACCATTTTCTATTTGATAAGCCTGTGTCCCCATTGCTGACTGCAGCTGG
GATGGCTCGAGACTGGCCAGATGCTCGTGGAATCTGGCACAACAATGAGA
AGAGCTTCTTGATCTGGGTGAATGAGGAAGATCATACCCGGGTCATCTCC
ATGGAGAAGGGTGGCAACATGAAGAGAGTGTTTGAAAGATTCTGCCGAGG
CCTCAAAGAGGTGGAGCGGCTCATCCAGGAGCGTGGCTGGGAATTCATGT
GGAATGAACGTTTGGGATACATCTTGACCTGTCCATCTAATCTAGGCACT
GGACTTCGGGCAGGAGTGCACATCAAACTTCCCCTGCTAAGCAAAGATAG
CCGCTTCCCAAAAATCCTGGAGAACCTAAGACTCCAAAAGCGTGGTACTG
GAGGAGTGGACACTGCTGCCACAGGCAACGTCTTTGACATCTCTAATTTG
GACCGACTGGGCAAATCGGAGGTGGAGTTGGTGCAACTGGTCATCGATGG
AGTAAATTATTTGATCGACTGTGAACGGCGTCTGGAGAGAGGCCAGGATA
TCCGCATCCCTGCACCTCTTGCTCACAGCAAGCAT

Alignment

Align specie	Pep length	Pep align begin	Pep align end	Mutaion type and postion
Human	448	1	448	Insert and frame-shift 77-78:Y-P^AC

 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
MetAlaGlyProPheSerArgLeuLeuSerAlaArgProGlyLeuArgLeuLeuAlaLeuAl
|||||||||   ||||||||||||||||||||||||||||||||||||||||||||||||||
MetAlaGlySerPheSerArgLeuLeuSerAlaArgProGlyLeuArgLeuLeuAlaLeuAl
ATGGCTGGTTCCTTCTCCCGTCTGCTGTCCGCCCGTCCGGGGCTCAGGCTCCTGGCTTTGGC

aGlyAlaGlySerLeuAlaAlaGlyPheLeuLeuArgProGluProValArgAlaAlaSerG
|||||||||||||||||||||||||         ||||||||||||||||||||||||||||
aGlyAlaGlySerLeuAlaAlaGly---------ArgProGluProValArgAlaAlaSerG
CGGAGCTGGGTCTCTAGCGGCTGGG---------CGCCCGGAACCTGTACGAGCCGCCAGTG

luArgArgArgLeuTyrProPro{Se}  >>>> Target Intron 1 >>>>  {r}Gln
|||||||||||||||||||||||{||}            534 bp           {|}|||
luArgArgArgLeuTyrProPro{Se}++                         ++{r}Gln
AACGACGGAGGCTGTATCCCCCA{AG}gt                         ag{C}CAG

ThrTrpProThrGlyGlnLeuProGlyAsnCysThrArgSerArgArgLeuCysProProSe
||||||      ||||||            ||||||   ||||||   ||||||||||||||
ThrTrpLeuIleGlyGlnProSerAspAspCysThrLysSerArgProLeuCysProProSe
ACATGGCTAATTGGACAGCCCTCAGATGACTGCACTAAGTCTAGGCCCCTGTGCCCTCCCTC

rMetValThrGlyTyr--ProLeuProSerAlaGluTyrProAspLeuArgLysHisAsnAs
||||||||||||||||##||||||||||||||||||||||||||||||||||||||||||||
rMetValThrGlyTyr##ProLeuProSerAlaGluTyrProAspLeuArgLysHisAsnAs
CATGGTTACTGGGTACACCCCCTCCCCAGCGCTGAGTACCCAGACCTCCGAAAGCACAACAA

nCysMetAlaSerHisLeuThrProAlaValTyrAlaArgLeuCysAspLysThrThrProT
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
nCysMetAlaSerHisLeuThrProAlaValTyrAlaArgLeuCysAspLysThrThrProT
CTGCATGGCCAGTCACCTGACCCCAGCAGTCTATGCTCGGCTCTGCGACAAGACCACACCCA

hrGlyTrpThrLeuAspGlnCysIleGlnThrGlyValAspAsnProGlyHisProPheIle
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
hrGlyTrpThrLeuAspGlnCysIleGlnThrGlyValAspAsnProGlyHisProPheIle
CTGGTTGGACGCTAGATCAGTGTATCCAGACTGGCGTGGACAACCCTGGCCACCCCTTCATC

LysThrValGlyMetValAlaGlyAspGluGluThrTyrGlu  >>>> Target Intron
||||||||||||||||||||||||||||||||||||||||||            208 bp  
LysThrValGlyMetValAlaGlyAspGluGluThrTyrGlu++                  
AAGACTGTGGGCATGGTGGCTGGAGATGAGGAGACCTATGAGgt                  

 2 >>>>  ValPheAlaAspLeuPheAspProValIleGlnGluArgHisAsnGlyTyrAs
         |||||||||||||||||||||||||||||||||||||||||||||||||||||
       ++ValPheAlaAspLeuPheAspProValIleGlnGluArgHisAsnGlyTyrAs
       agGTATTTGCTGACCTGTTTGATCCTGTGATCCAAGAAAGACACAATGGATATGA

pProArgThrMetLysHisThrThrAspLeuAspAlaSerLys  >>>> Target Intro
|||||||||||||||||||||||||||||||||||||   |||            389 bp 
pProArgThrMetLysHisThrThrAspLeuAspAlaAsnLys++                 
CCCCAGGACAATGAAGCATACCACTGACCTGGATGCCAATAAGgt                 

n 3 >>>>  IleArgSerGlyTyrPheAspGluArgTyrValLeuSerSerArgValArgT
          ||||||||||||||||||||||||||||||||||||||||||||||||||||
        ++IleArgSerGlyTyrPheAspGluArgTyrValLeuSerSerArgValArgT
        agATCCGTTCTGGCTATTTTGATGAGAGGTATGTATTGTCCTCAAGAGTCAGAA

hrGlyArgSerIleArgGlyLeuSerLeuProProAlaCysThrArgAlaGluArgArgGlu
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
hrGlyArgSerIleArgGlyLeuSerLeuProProAlaCysThrArgAlaGluArgArgGlu
CTGGCCGAAGTATCCGGGGACTCAGTCTGCCTCCAGCCTGCACTCGGGCAGAGCGACGAGAG

ValGluArgValValValAspAlaLeuSerGlyLeuLysGlyAspLeuAlaGlyArgTyrTy
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ValGluArgValValValAspAlaLeuSerGlyLeuLysGlyAspLeuAlaGlyArgTyrTy
GTGGAACGTGTGGTGGTGGATGCTTTGAGTGGCCTGAAGGGTGACCTGGCCGGACGTTACTA

rArgLeuSerGluMetThrGluAlaGluGlnGlnGlnLeuIleAsp  >>>> Target In
||||||||||   |||||||||||||||||||||||||||||||||            145 
rArgLeuSerAspMetThrGluAlaGluGlnGlnGlnLeuIleAsp++              
TAGGCTCAGTGACATGACAGAAGCTGAGCAGCAGCAGCTTATTGATgt              

tron 4 >>>>  AspHisPheLeuPheAspLysProValSerProLeuLeuThrAlaAlaG
bp           |||||||||||||||||||||||||||||||||||||||||||||||||
           ++AspHisPheLeuPheAspLysProValSerProLeuLeuThrAlaAlaG
           agGACCATTTTCTATTTGATAAGCCTGTGTCCCCATTGCTGACTGCAGCTG

lyMetAlaArgAspTrpProAspAlaArgGlyIle{Tr}  >>>> Target Intron 5 
|||||||||||||||||||||||||||||||||||{||}            116 bp     
lyMetAlaArgAspTrpProAspAlaArgGlyIle{Tr}++                     
GGATGGCTCGAGACTGGCCAGATGCTCGTGGAATC{TG}gt                     

>>>>  {p}HisAsnAsnGluLysSerPheLeuIleTrpValAsnGluGluAspHisThrAr
      {|}|||||||||||||||||||||||||||||||||||||||||||||||||||||
    ++{p}HisAsnAsnGluLysSerPheLeuIleTrpValAsnGluGluAspHisThrAr
    ag{G}CACAACAATGAGAAGAGCTTCTTGATCTGGGTGAATGAGGAAGATCATACCCG

gValIleSerMetGluLysGlyGlyAsnMetLysArgValPheGluArgPheCysArgGlyL
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
gValIleSerMetGluLysGlyGlyAsnMetLysArgValPheGluArgPheCysArgGlyL
GGTCATCTCCATGGAGAAGGGTGGCAACATGAAGAGAGTGTTTGAAAGATTCTGCCGAGGCC

euLysGlu  >>>> Target Intron 6 >>>>  ValGluArgLeuIleGlnGluArgG
||||||||           1628 bp           |||||||||||||||||||||||||
euLysGlu++                         ++ValGluArgLeuIleGlnGluArgG
TCAAAGAGgt                         agGTGGAGCGGCTCATCCAGGAGCGTG

lyTrpGluPheMetTrpAsnGluArgLeuGlyTyrIleLeuThrCysProSerAsnLeuGly
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
lyTrpGluPheMetTrpAsnGluArgLeuGlyTyrIleLeuThrCysProSerAsnLeuGly
GCTGGGAATTCATGTGGAATGAACGTTTGGGATACATCTTGACCTGTCCATCTAATCTAGGC

ThrGlyLeuArgAlaGlyValHisIleLysLeuProLeuLeuSerLys  >>>> Target 
||||||||||||||||||||||||||||||||||||||||||||||||            20
ThrGlyLeuArgAlaGlyValHisIleLysLeuProLeuLeuSerLys++            
ACTGGACTTCGGGCAGGAGTGCACATCAAACTTCCCCTGCTAAGCAAAgt            

Intron 7 >>>>  AspSerArgPheProLysIleLeuGluAsnLeuArgLeuGlnLysAr
3 bp           |||||||||||||||||||||||||||||||||||||||||||||||
             ++AspSerArgPheProLysIleLeuGluAsnLeuArgLeuGlnLysAr
             agGATAGCCGCTTCCCAAAAATCCTGGAGAACCTAAGACTCCAAAAGCG

gGlyThrGlyGlyValAspThrAlaAlaThrGlyGlyValPheAspIleSerAsnLeuAspA
||||||||||||||||||||||||||||||||||   |||||||||||||||||||||||||
gGlyThrGlyGlyValAspThrAlaAlaThrGlyAsnValPheAspIleSerAsnLeuAspA
TGGTACTGGAGGAGTGGACACTGCTGCCACAGGCAACGTCTTTGACATCTCTAATTTGGACC

rgLeuGlyLysSerGlu  >>>> Target Intron 8 >>>>  ValGluLeuValGlnL
|||||||||||||||||            218 bp           ||||||||||||||||
rgLeuGlyLysSerGlu++                         ++ValGluLeuValGlnL
GACTGGGCAAATCGGAGgt                         agGTGGAGTTGGTGCAAC

euValIleAspGlyValAsnTyrLeuIleAspCysGluArgArgLeuGluArgGlyGlnAsp
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
euValIleAspGlyValAsnTyrLeuIleAspCysGluArgArgLeuGluArgGlyGlnAsp
TGGTCATCGATGGAGTAAATTATTTGATCGACTGTGAACGGCGTCTGGAGAGAGGCCAGGAT

IleArgIleProThrProValIleHisThrLysHis
||||||||||||   |||      |||   ||||||
IleArgIleProAlaProLeuAlaHisSerLysHis
ATCCGCATCCCTGCACCTCTTGCTCACAGCAAGCAT


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