Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.719784611694321 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394622
Genbank transcript ID NM_001040665
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region CDS
DNA changes c.1367G>A
cDNA.1536G>A
g.64929G>A
AA changes R456Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 456
frameshift no
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG		 atgt|ATAA
Acc marginally increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC		 catg|TATA
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA		 AAGC|cgaa
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT		 TAAG|ccga
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA		 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC		 ATAA|gccg
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG		 GAAA|gcta
distance from splice site 182
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      456GKIILFLPCISRKLKRIKKGWEKS
mutated  all conserved    456GKIILFLPCISQKLKRIKKGWEK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000015653  455GKMILLLPCISRKLKRIKKGWEK
Ggallus  all identical  ENSGALG00000009017  456GKIIFLLPCVSRKLRRIRRGWEK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062887  459GKIVLLLPCVSRKLKRIRRGLDS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000027669  455GKVILLCPCVSKRLRGIKRGREK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1473 / 1473
position (AA) of stopcodon in wt / mu AA sequence 491 / 491
position of stopcodon in wt / mu cDNA 1642 / 1642
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 170 / 170
chromosome 7
strand 1
last intron/exon boundary 1355
theoretical NMD boundary in CDS 1135
length of CDS 1473
coding sequence (CDS) position 1367
cDNA position
(for ins/del: last normal base / first normal base)		 1536
gDNA position
(for ins/del: last normal base / first normal base)		 64929
chromosomal position
(for ins/del: last normal base / first normal base)		 89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered cDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISRKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
mutated AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISQKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
speed 0.33 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