Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995985      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:49388901C>TN/A show variant in all transcripts   IGV
HGNC symbol FRMPD2
Ensembl transcript ID ENST00000374201
Genbank transcript ID NM_001018071
UniProt peptide Q68DX3
alteration type single base exchange
alteration region CDS
DNA changes c.2735G>A
cDNA.3038G>A
g.94041G>A
AA changes G912E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 912
frameshift no
known variant Reference ID: rs61840030
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280
-3.0840
(flanking)0.6140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased94044wt: 0.61 / mu: 0.83wt: TGGGGTGCAGAGCTT
mu: TGAGGTGCAGAGCTT		 GGGT|gcag
Donor gained940360.86mu: GACATGGCTGAGGTG CATG|gctg
Donor gained940370.55mu: ACATGGCTGAGGTGC ATGG|ctga
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      912QDRNTEELDMAGVQSLVPRLRHQL
mutated  not conserved    912QDRNTEELDMAEVQSLVPRLRHQ
Ptroglodytes  all identical  ENSPTRG00000002477  912QDRNTEELDMAGVQSLVPRLRHQ
Mmulatta  all identical  ENSMMUG00000004056  900DMAGVKSLVPRLRHQ
Fcatus  not conserved  ENSFCAG00000006974  912QEKNTEELEMAQTQSLLSRVR-P
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074119  830V---MMTPKASNR
Dmelanogaster  no homologue    
Celegans  no alignment  Y38C1AB.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9501035DOMAINPDZ 2.might get lost (downstream of altered splice site)
955955MUTAGENK->E: Abolishes the basolateral membrane localization.might get lost (downstream of altered splice site)
969969CONFLICTN -> M (in Ref. 5; AAH73954/AAI44636/ AAI44640).might get lost (downstream of altered splice site)
10771077CONFLICTK -> N (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
10791167DOMAINPDZ 3.might get lost (downstream of altered splice site)
11741174CONFLICTL -> M (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
12141214CONFLICTS -> F (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3930 / 3930
position (AA) of stopcodon in wt / mu AA sequence 1310 / 1310
position of stopcodon in wt / mu cDNA 4233 / 4233
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 304 / 304
chromosome 10
strand -1
last intron/exon boundary 4185
theoretical NMD boundary in CDS 3831
length of CDS 3930
coding sequence (CDS) position 2735
cDNA position
(for ins/del: last normal base / first normal base)		 3038
gDNA position
(for ins/del: last normal base / first normal base)		 94041
chromosomal position
(for ins/del: last normal base / first normal base)		 49388901
original gDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered gDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
original cDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered cDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
wildtype AA sequence MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN DSSDYVVCPW
SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD ASQMHVYSLG MTLYWSAGFH
VPPHQPLQLC EPLHSILLTM CEDQPHRRCT LQSVLEACRV HEKEVSVYPA PAGLHIRRLV
GLVLGTISEV EKRVVEESSS VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE
TQSSPEPHWS TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN GQHLEVKCDV
ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET RLCKIAPEGW REQPQKTSMN
TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ LRKDILEERL YCNEEILLQL GVLALQAEFG
NYPKEQVESK PYFHVEDYIP ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ
QLPEYGVLVH QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL FDHDKFVQMA
NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS TSMDNFNVDG SKEAGAEGIG
RSPCTGREQL KSACVIQKPM TWDSLSGPPV QSMHAGSKNN RRKSFIAEPG REIVRVTLKR
DPHRGFGFVI NEGEYSGQAD PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN
MAVRMIQNSP DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD
QDRNTEELDM AGVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF VELVKEDGTL
GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL LQVDGVILCG LTHKQAVQCL
TGPGQVARLV LERRVPRSTQ QCPSANDSMG DERTAVSLVT ALPGRPSSCV SVTDGPKFEV
KLKKNANGLG FSFVQMEKES CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST
EGLIFQEVLH LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT HSPESHPHLC
KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP LTRLSTDIF*
mutated AA sequence MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN DSSDYVVCPW
SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD ASQMHVYSLG MTLYWSAGFH
VPPHQPLQLC EPLHSILLTM CEDQPHRRCT LQSVLEACRV HEKEVSVYPA PAGLHIRRLV
GLVLGTISEV EKRVVEESSS VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE
TQSSPEPHWS TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN GQHLEVKCDV
ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET RLCKIAPEGW REQPQKTSMN
TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ LRKDILEERL YCNEEILLQL GVLALQAEFG
NYPKEQVESK PYFHVEDYIP ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ
QLPEYGVLVH QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL FDHDKFVQMA
NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS TSMDNFNVDG SKEAGAEGIG
RSPCTGREQL KSACVIQKPM TWDSLSGPPV QSMHAGSKNN RRKSFIAEPG REIVRVTLKR
DPHRGFGFVI NEGEYSGQAD PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN
MAVRMIQNSP DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD
QDRNTEELDM AEVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF VELVKEDGTL
GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL LQVDGVILCG LTHKQAVQCL
TGPGQVARLV LERRVPRSTQ QCPSANDSMG DERTAVSLVT ALPGRPSSCV SVTDGPKFEV
KLKKNANGLG FSFVQMEKES CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST
EGLIFQEVLH LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT HSPESHPHLC
KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP LTRLSTDIF*
speed 0.84 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