Basic information |
Official Symbol | SLC38A5 |
Description | solute carrier family 38, member 5 |
Other Aliases | PP7194, JM24, SN2, SNAT5, pp7194 |
Other Description | sodium-coupled neutral amino acid transporter 5; system N transporter 2 |
Mutation type | Insert and frame-shift 30-31:R-G^GG, Insert and frame-shift 72-73:A-M^CC, premature termination 250:Q->TAG, premature termination 313:Y->TAG, premature termination 394:V->TAG |
Location | Scaffold143793_1:237995 250262 + |
Wiki | Wikipedia GeneCard |
Sequence |
SLC38A5 |
GAATGCAAGGGCTTCCTGCCCAGCCGTGGTCCTGCTCCTGGGAGGAAACC GGTCCAGTTCATGGATTTCGAGGGGAAAACATCATTTGCAATGTCAGTGT TCAACCTCAGCAATGCTATCATGGGCAGTGGCATCATAATGGCCCACACA GGGGTGCTCTTCTTCCTGGCCCTGCTGCTGTGCATTACACTTCTGTCTTC ATACTCTATCCACCTCCTGCTGACTTGTGCTGGTGTTGTAGGCATCCGAG CCTATGAGCAGCTGGGACAGAAGGCATTTGGACCTGCAGGGAAGGCAGTA GTGGCTGGGTTCATCTGTCTGCATAATGTTGGGGCCATGTCCAGTTACCT GTTCATCATCAAATCTGAACTCCCCCTGGTTATTGGCACCTTCCTGCACA TGGACCCAAGGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCATT GTCAGTGTGCTTGTCATTCTGCCTCTGGCCCTCATGAAATACTTGGGCTA CCTGGGGTATACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTCA TTGTGCTCATCTATAAGAAGTTCCAGCTTGGCTATGCTGTTGGCCGCAAT GAGACAGCAATGGAGAGTGAATCCTCACCAGACCTCTCCGCCCAGGGGCT CAACAGTAGCTGTGAGGCCTAGTTGTTCACAGTAGACTCTCAGATGTCTT ACACAGTGCCCATTATGGCTTTTGCCTTTATCTGCCACTCTGAGGTGCTG CCCATCTACACAGAGCTCTGCCGGCCCTCCCAGCACAGGATGCAGGCTGT GGCCAACGTGTCCATTGGGGCCATGTTCTGCAGGTATGGGCTCACAGCAA CCTTTGGATAGCTCACTTTCTATAGCAGCATGGAGACAGAGATGCTGCTC ATGTACAGCAAGGAGGATGTGCTCATCCTCTGCGTGCGCCTGGCCATGCT GCTTGCCATGACCCTCACTGTACCACTTGTGCTGTTCCCTATCTGCTGGG CCCTGCAGCAGCTGTTTCTCCCTGCTTGTTTTGGGCAATGTCCTTGTCAT CTGTGTTCCAACCATCTGGGACATCTTTGGGGTTATTGTTGTTCTCAAAC TTAGGTTGACTTCTGTCCCTCCTTTCTGTCTCTAGGGTTGACCTCAGTCG CCAGCCTCATCTTCATCCTTCCCAGTGTCTTCTACCTCCGCATTGTACCC TCTGAGGTGGAGCCCTTCTTTTCCTGGCCCAAGATCCGGGCCCTGTGTTT TGGCATCCTGGGGGTCCTCTTCATGGCCATCAGTCTAGGCTTTATGTTTG CCAACTGGGTCACAGGCCAGAGCCATGTGTTTGGACAC |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 472 | 22 | 472 | Insert and frame-shift 30-31:R-G^GG, Insert and frame-shift 72-73:A-M^CC, Premature termination 250:Q->TAG, Premature termination 313:Y->TAG, Premature termination 394:V->TAG |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> GluArgGluGlyPheLeuProSerArg--GlyProAlaProGlySerLysProValGlnP ||| ||||||||||||||||||##||||||||||||||| ||||||||||||| GluCysLysGlyPheLeuProSerArg##GlyProAlaProGlyArgLysProValGlnP GAATGCAAGGGCTTCCTGCCCAGCCGTGGGGTCCTGCTCCTGGGAGGAAACCGGTCCAGT heMetAsp >>>> Target Intron 1 >>>> PheGluGlyLysThrSerPheGl |||||||| 520 bp ||||||||||||||||||||| heMetAsp++ ++PheGluGlyLysThrSerPheAl TCATGGATgt agTTCGAGGGGAAAACATCATTTGC yMetSerValPheAsnLeuSerAsnAlaIleMetGlySerGlyIleLeuGlyLeuAlaTy ||||||||||||||||||||||||||||||||||||||||||||| aMetSerValPheAsnLeuSerAsnAlaIleMetGlySerGlyIleIle----------- AATGTCAGTGTTCAACCTCAGCAATGCTATCATGGGCAGTGGCATCATA----------- rAla--MetAlaHisThrGlyValIlePhePhe{Le} >>>> Target Intron 2 ##|||||||||||||||||| ||||||{||} 89 bp ----##MetAlaHisThrGlyValLeuPhePhe{Le}++ ----CCATGGCCCACACAGGGGTGCTCTTCTTC{CT}gt >>>> {u}AlaLeuLeuLeuCysIleAlaLeuLeuSerSerTyrSerIleHisLeuLeu {|}|||||||||||||||||| |||||||||||||||||||||||||||||| ++{u}AlaLeuLeuLeuCysIleThrLeuLeuSerSerTyrSerIleHisLeuLeu ag{G}GCCCTGCTGCTGTGCATTACACTTCTGTCTTCATACTCTATCCACCTCCTG LeuThrCysAlaGlyIleAla{G} >>>> Target Intron 3 >>>> {ly}Ile ||||||||||||||| {|} 688 bp {||}||| LeuThrCysAlaGlyValVal{G}++ ++{ly}Ile CTGACTTGTGCTGGTGTTGTA{G}gt ag{GC}ATC ArgAlaTyrGluGlnLeuGlyGlnArgAlaPheGlyProAlaGlyLysValValValAla |||||||||||||||||||||||| ||||||||||||||||||||| ||||||||| ArgAlaTyrGluGlnLeuGlyGlnLysAlaPheGlyProAlaGlyLysAlaValValAla CGAGCCTATGAGCAGCTGGGACAGAAGGCATTTGGACCTGCAGGGAAGGCAGTAGTGGCT ThrValIleCysLeuHisAsnValGly{A} >>>> Target Intron 4 >>>> { |||||||||||||||||||||{|} 136 bp { GlyPheIleCysLeuHisAsnValGly{A}++ ++{ GGGTTCATCTGTCTGCATAATGTTGGG{G}gt ag{ la}MetSerSerTyrLeuPheIleIleLysSerGluLeuProLeuValIleGlyThrPhe ||}||||||||||||||||||||||||||||||||||||||||||||||||||||||||| la}MetSerSerTyrLeuPheIleIleLysSerGluLeuProLeuValIleGlyThrPhe CC}ATGTCCAGTTACCTGTTCATCATCAAATCTGAACTCCCCCTGGTTATTGGCACCTTC LeuTyrMetAspProGlu{G} >>>> Target Intron 5 >>>> {ly}AspTrp ||| ||||||||| {|} 5310 bp {||}|||||| LeuHisMetAspProArg{G}++ --{ly}AspTrp CTGCACATGGACCCAAGG{G}gt ta{GG}GACTGG PheLeuLysGlyAsnLeuLeuIleIleIleValSerValLeuIleIleLeuProLeuAla |||||||||||||||||||||||||||||||||||||||||| ||||||||||||||| PheLeuLysGlyAsnLeuLeuIleIleIleValSerValLeuValIleLeuProLeuAla TTCTTGAAGGGAAACCTCCTCATCATCATTGTCAGTGTGCTTGTCATTCTGCCTCTGGCC LeuMetLysHisLeu{G} >>>> Target Intron 6 >>>> {ly}TyrLeuGly ||||||||| |||{|} 856 bp {||}||||||||| LeuMetLysTyrLeu{G}++ ++{ly}TyrLeuGly CTCATGAAATACTTG{G}gt ag{GC}TACCTGGGG TyrThrSerGlyLeuSerLeuThrCysMetLeuPhePheLeuValSer >>>> Targe |||||||||||||||||||||||||||||||||||||||||| TyrThrSerGlyLeuSerLeuThrCysMetLeuPhePheLeuIleVal++ TATACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTCATTGTGgt t Intron 7 >>>> ValIleTyrLysLysPheGlnLeuGlyCysAlaIleGlyHisA 104 bp |||||||||||||||||||||||| ||| ||| | ++LeuIleTyrLysLysPheGlnLeuGlyTyrAlaValGlyArgA agCTCATCTATAAGAAGTTCCAGCTTGGCTATGCTGTTGGCCGCA snGluThrAlaMetGluSerGluAlaLeuValGlyLeuProSerGlnGlyLeuAsnSerS ||||||||||||||||||||||| ||| |||||||||||||||| snGluThrAlaMetGluSerGluSerSerProAspLeuSerAlaGlnGlyLeuAsnSerS ATGAGACAGCAATGGAGAGTGAATCCTCACCAGACCTCTCCGCCCAGGGGCTCAACAGTA erCysGluAlaGlnMetPheThrValAspSerGln >>>> Target Intron 8 >> ||||||||||| |||||||||||||||||| 206 bp erCysGluAla***LeuPheThrValAspSerGln++ GCTGTGAGGCCTAGTTGTTCACAGTAGACTCTCAGgt >> MetSerTyrThrValProIleMetAlaPheAlaPheValCysHisProGluValLe |||||||||||||||||||||||||||||||||||| |||||| |||||||| ++MetSerTyrThrValProIleMetAlaPheAlaPheIleCysHisSerGluValLe agATGTCTTACACAGTGCCCATTATGGCTTTTGCCTTTATCTGCCACTCTGAGGTGCT uProIleTyrThrGluLeuCys{Ar} >>>> Target Intron 9 >>>> {g}Pr ||||||||||||||||||||||{||} 1056 bp {|}|| uProIleTyrThrGluLeuCys{Ar}++ ++{g}Pr GCCCATCTACACAGAGCTCTGC{CG}gt ag{G}CC oSerLysArgArgMetGlnAlaValAlaAsnValSerIleGlyAlaMetPheCysMetTy |||| ||||||||||||||||||||||||||||||||||||||||||||| || oSerGlnHisArgMetGlnAlaValAlaAsnValSerIleGlyAlaMetPheCysArgTy CTCCCAGCACAGGATGCAGGCTGTGGCCAACGTGTCCATTGGGGCCATGTTCTGCAGGTA rGlyLeuThrAlaThrPheGlyTyrLeuThrPheTyr{S} >>>> Target Intron |||||||||||||||||||||| ||||||||||||{|} 222 bp rGlyLeuThrAlaThrPheGly***LeuThrPheTyr{S}++ TGGGCTCACAGCAACCTTTGGATAGCTCACTTTCTAT{A}gt 10 >>>> {er}SerValLysAlaGluMetLeuHisMetTyrSerGlnLysAspProL {||}||| ||||||||| ||||||||| ||| | ++{er}SerMetGluThrGluMetLeuLeuMetTyrSerLysGluAspValL ag{GC}AGCATGGAGACAGAGATGCTGCTCATGTACAGCAAGGAGGATGTGC euIleLeuCysValArgLeuAlaValLeuLeuAlaValThrLeuThrValProValValL ||||||||||||||||||||||| ||||||||| ||||||||||||||| |||| euIleLeuCysValArgLeuAlaMetLeuLeuAlaMetThrLeuThrValProLeuValL TCATCCTCTGCGTGCGCCTGGCCATGCTGCTTGCCATGACCCTCACTGTACCACTTGTGC euPhePro >>>> Target Intron 11 >>>> IleArgArgAlaLeuGlnGlnL |||||||| 1211 bp ||| ||||||||||||| euPhePro++ ++IleCysTrpAlaLeuGlnGlnL TGTTCCCTgt agATCTGCTGGGCCCTGCAGCAGC euLeuPheProGlyLysAlaPheSerTrpProArgHisValAlaIleAlaLeuIleLeuL || ||| ||| ||| euPheLeuProAlaCysPheGlyGlnCysProCysHisLeuCysSerAsnHisLeuGlyH TGTTTCTCCCTGCTTGTTTTGGGCAATGTCCTTGTCATCTGTGTTCCAACCATCTGGGAC euValLeuValAsn{Va} >>>> Target Intron 12 >>>> {l}LeuValIle { } 45 bp { } isLeuTrpGlyTyr{Cy}++ --{s}CysSerGln ATCTTTGGGGTTAT{TG}gt ct{T}TGTTCTCAA CysValProThrIleArgAspIlePheGlyValIleGlySerThrSerAlaProSerLeu ||| ||| |||||| |||||| Thr***ValAspPheCysProSerPheLeuSerLeuGlyLeuThrSerValAlaSerLeu ACTTAGGTTGACTTCTGTCCCTCCTTTCTGTCTCTAGGGTTGACCTCAGTCGCCAGCCTC IlePheIleLeuProSerIlePheTyrLeuArgIleValProSerGluValGluProPhe |||||||||||||||||| ||||||||||||||||||||||||||||||||||||||| IlePheIleLeuProSerValPheTyrLeuArgIleValProSerGluValGluProPhe ATCTTCATCCTTCCCAGTGTCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAGCCCTTC LeuSerTrpProLysIleGln >>>> Target Intron 13 >>>> AlaLeuCys ||||||||||||||| 483 bp ||||||||| PheSerTrpProLysIleArg++ ++AlaLeuCys TTTTCCTGGCCCAAGATCCGGgt agGCCCTGTGT PheGlyValLeuGlyValLeuPheMetAlaValSerLeuGlyPheMetPheAlaAsnTrp |||||| ||||||||||||||||||||| ||||||||||||||||||||||||||| PheGlyIleLeuGlyValLeuPheMetAlaIleSerLeuGlyPheMetPheAlaAsnTrp TTTGGCATCCTGGGGGTCCTCTTCATGGCCATCAGTCTAGGCTTTATGTTTGCCAACTGG AlaThrGlyGlnSerArgMetSerGlyHis |||||||||||| |||||| ValThrGlyGlnSerHisValPheGlyHis GTCACAGGCCAGAGCCATGTGTTTGGACAC // |