Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.693403544776882 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM032948)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:66036441A>GN/A show variant in all transcripts   IGV
HGNC symbol LEPR
Ensembl transcript ID ENST00000371058
Genbank transcript ID NM_001198688
UniProt peptide P48357
alteration type single base exchange
alteration region CDS
DNA changes c.326A>G
cDNA.346A>G
g.150194A>G
AA changes K109R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 109
frameshift no
known variant Reference ID: rs1137100
databasehomozygous (G/G)heterozygousallele carriers
1000G4207641184
ExAC64991976926268

known disease mutation at this position, please check HGMD for details (HGMD ID CM032948)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.840.965
1.4430.925
(flanking)0.3460.602
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased150188wt: 0.23 / mu: 0.99wt: CATTGAAGGAAAGAC
mu: CATTGAAGGAAGGAC		 TTGA|agga
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      109NCSLCADNIEGKTFVSTVNSLVFQ
mutated  all conserved    109NCSLCADNIEGRTFVSTVNSLVF
Ptroglodytes  all identical  ENSPTRG00000034314  109NCSLCADNIEGKTFVSTVNSLVF
Mmulatta  all identical  ENSMMUG00000003265  109NCSLCADNIEGKTFVSTVNSSVF
Fcatus  all identical  ENSFCAG00000011703  94NCSVHADDVEGKAFVATVNSLVF
Mmusculus  all identical  ENSMUSG00000057722  109NCSALTDNTEGKTLASVVKASVF
Ggallus  all conserved  ENSGALG00000011058  106SCSLYSANMQARMLIPSEMSISAS
Trubripes  no alignment  ENSTRUG00000018553  n/a
Drerio  not conserved  ENSDARG00000070961  75NSGLSEHPPE--QHCQLLNATKQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000020387  107NFSSQNGVAELKEMLFASFASDI
protein features
start (aa)end (aa)featuredetails 
22839TOPO_DOMExtracellular (Potential).lost
131131DISULFIDmight get lost (downstream of altered splice site)
142142DISULFIDmight get lost (downstream of altered splice site)
186186DISULFIDmight get lost (downstream of altered splice site)
187187CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
188188DISULFIDmight get lost (downstream of altered splice site)
193193DISULFIDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
206206CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
237330DOMAINFibronectin type-III 1.might get lost (downstream of altered splice site)
276276CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
331429DOMAINIg-like.might get lost (downstream of altered splice site)
347347CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352DISULFIDmight get lost (downstream of altered splice site)
397397CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
412412DISULFIDmight get lost (downstream of altered splice site)
413413DISULFIDmight get lost (downstream of altered splice site)
418418DISULFIDmight get lost (downstream of altered splice site)
435438STRANDmight get lost (downstream of altered splice site)
436436DISULFIDmight get lost (downstream of altered splice site)
445449STRANDmight get lost (downstream of altered splice site)
447447DISULFIDmight get lost (downstream of altered splice site)
461468STRANDmight get lost (downstream of altered splice site)
467484REGIONLeptin-binding (Probable).might get lost (downstream of altered splice site)
473473DISULFIDmight get lost (downstream of altered splice site)
484486STRANDmight get lost (downstream of altered splice site)
488488DISULFIDmight get lost (downstream of altered splice site)
488490STRANDmight get lost (downstream of altered splice site)
496500STRANDmight get lost (downstream of altered splice site)
498498DISULFIDmight get lost (downstream of altered splice site)
509516STRANDmight get lost (downstream of altered splice site)
516516CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
527529STRANDmight get lost (downstream of altered splice site)
528528DISULFIDmight get lost (downstream of altered splice site)
531534HELIXmight get lost (downstream of altered splice site)
537631DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
544548STRANDmight get lost (downstream of altered splice site)
549552TURNmight get lost (downstream of altered splice site)
553557STRANDmight get lost (downstream of altered splice site)
568580STRANDmight get lost (downstream of altered splice site)
584588STRANDmight get lost (downstream of altered splice site)
595598STRANDmight get lost (downstream of altered splice site)
607615STRANDmight get lost (downstream of altered splice site)
622626MOTIFWSXWS motif.might get lost (downstream of altered splice site)
624624CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
639732DOMAINFibronectin type-III 3.might get lost (downstream of altered splice site)
659659CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
688688CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
697697CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
728728CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
734829DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
750750CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
840862TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
8631165TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
871879MOTIFBox 1 motif.might get lost (downstream of altered splice site)
893898REGIONRequired for JAK2 activation (By similarity).might get lost (downstream of altered splice site)
976976CONFLICTD -> A (in Ref. 1; AAA93015 and 4; AAB09673).might get lost (downstream of altered splice site)
986986MUTAGENY->F: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation.might get lost (downstream of altered splice site)
986986MOD_RESPhosphotyrosine; by JAK2 (By similarity).might get lost (downstream of altered splice site)
10781079MUTAGENYY->FF: No effect on PTPN11 nor STAT3 phosphorylation.might get lost (downstream of altered splice site)
11411141MUTAGENY->F: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation.might get lost (downstream of altered splice site)
11411141MOD_RESPhosphotyrosine; by JAK2 (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2721 / 2721
position (AA) of stopcodon in wt / mu AA sequence 907 / 907
position of stopcodon in wt / mu cDNA 2741 / 2741
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 21 / 21
chromosome 1
strand 1
last intron/exon boundary 2694
theoretical NMD boundary in CDS 2623
length of CDS 2721
coding sequence (CDS) position 326
cDNA position
(for ins/del: last normal base / first normal base)		 346
gDNA position
(for ins/del: last normal base / first normal base)		 150194
chromosomal position
(for ins/del: last normal base / first normal base)		 66036441
original gDNA sequence snippet TGCAGACAACATTGAAGGAAAGACATTTGTTTCAACAGTAA
altered gDNA sequence snippet TGCAGACAACATTGAAGGAAGGACATTTGTTTCAACAGTAA
original cDNA sequence snippet TGCAGACAACATTGAAGGAAAGACATTTGTTTCAACAGTAA
altered cDNA sequence snippet TGCAGACAACATTGAAGGAAGGACATTTGTTTCAACAGTAA
wildtype AA sequence MICQKFCVVL LHWEFIYVIT AFNLSYPITP WRFKLSCMPP NSTYDYFLLP AGLSKNTSNS
NGHYETAVEP KFNSSGTHFS NLSKTTFHCC FRSEQDRNCS LCADNIEGKT FVSTVNSLVF
QQIDANWNIQ CWLKGDLKLF ICYVESLFKN LFRNYNYKVH LLYVLPEVLE DSPLVPQKGS
FQMVHCNCSV HECCECLVPV PTAKLNDTLL MCLKITSGGV IFQSPLMSVQ PINMVKPDPP
LGLHMEITDD GNLKISWSSP PLVPFPLQYQ VKYSENSTTV IREADKIVSA TSLLVDSILP
GSSYEVQVRG KRLDGPGIWS DWSTPRVFTT QDVIYFPPKI LTSVGSNVSF HCIYKKENKI
VPSKEIVWWM NLAEKIPQSQ YDVVSDHVSK VTFFNLNETK PRGKFTYDAV YCCNEHECHH
RYAELYVIDV NINISCETDG YLTKMTCRWS TSTIQSLAES TLQLRYHRSS LYCSDIPSIH
PISEPKDCYL QSDGFYECIF QPIFLLSGYT MWIRINHSLG SLDSPPTCVL PDSVVKPLPP
SSVKAEITIN IGLLKISWEK PVFPENNLQF QIRYGLSGKE VQWKMYEVYD AKSKSVSLPV
PDLCAVYAVQ VRCKRLDGLG YWSNWSNPAY TVVMDIKVPM RGPEFWRIIN GDTMKKEKNV
TLLWKPLMKN DSLCSVQRYV INHHTSCNGT WSEDVGNHTK FTFLWTEQAH TVTVLAINSI
GASVANFNLT FSWPMSKVNI VQSLSAYPLN SSCVIVSWIL SPSDYKLMYF IIEWKNLNED
GEIKWLRISS SVKKYYIHDH FIPIEKYQFS LYPIFMEGVG KPKIINSFTQ DDIEKHQSDA
GLYVIVPVII SSSILLLGTL LISHQRMKKL FWEDVPNPKN CSWAQGLNFQ KKMPGTKELL
GGGWLT*
mutated AA sequence MICQKFCVVL LHWEFIYVIT AFNLSYPITP WRFKLSCMPP NSTYDYFLLP AGLSKNTSNS
NGHYETAVEP KFNSSGTHFS NLSKTTFHCC FRSEQDRNCS LCADNIEGRT FVSTVNSLVF
QQIDANWNIQ CWLKGDLKLF ICYVESLFKN LFRNYNYKVH LLYVLPEVLE DSPLVPQKGS
FQMVHCNCSV HECCECLVPV PTAKLNDTLL MCLKITSGGV IFQSPLMSVQ PINMVKPDPP
LGLHMEITDD GNLKISWSSP PLVPFPLQYQ VKYSENSTTV IREADKIVSA TSLLVDSILP
GSSYEVQVRG KRLDGPGIWS DWSTPRVFTT QDVIYFPPKI LTSVGSNVSF HCIYKKENKI
VPSKEIVWWM NLAEKIPQSQ YDVVSDHVSK VTFFNLNETK PRGKFTYDAV YCCNEHECHH
RYAELYVIDV NINISCETDG YLTKMTCRWS TSTIQSLAES TLQLRYHRSS LYCSDIPSIH
PISEPKDCYL QSDGFYECIF QPIFLLSGYT MWIRINHSLG SLDSPPTCVL PDSVVKPLPP
SSVKAEITIN IGLLKISWEK PVFPENNLQF QIRYGLSGKE VQWKMYEVYD AKSKSVSLPV
PDLCAVYAVQ VRCKRLDGLG YWSNWSNPAY TVVMDIKVPM RGPEFWRIIN GDTMKKEKNV
TLLWKPLMKN DSLCSVQRYV INHHTSCNGT WSEDVGNHTK FTFLWTEQAH TVTVLAINSI
GASVANFNLT FSWPMSKVNI VQSLSAYPLN SSCVIVSWIL SPSDYKLMYF IIEWKNLNED
GEIKWLRISS SVKKYYIHDH FIPIEKYQFS LYPIFMEGVG KPKIINSFTQ DDIEKHQSDA
GLYVIVPVII SSSILLLGTL LISHQRMKKL FWEDVPNPKN CSWAQGLNFQ KKMPGTKELL
GGGWLT*
speed 0.77 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project