mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
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

ENST00000394632

Genbank transcript ID

NM_001244946

UniProt peptide

Q8NFT2

alteration type

single base exchange

alteration region

intron

DNA changes

g.64929G>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs194524

database	homozygous (A/A)	heterozygous	allele carriers
1000G	309	1034	1343
ExAC	13918	4931	18849

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.007	0.986
	1.311	0.994
(flanking)	0.495	0.995

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	64921	wt: 0.9895 / mu: 0.9897 (marginal change - not scored)	wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG	atgt\|ATAA
Acc marginally increased	64920	wt: 0.2536 / mu: 0.2552 (marginal change - not scored)	wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC	catg\|TATA
Donor marginally increased	64927	wt: 0.9557 / mu: 0.9696 (marginal change - not scored)	wt: ATAAGCCGAAAGCTA mu: ATAAGCCAAAAGCTA	AAGC\|cgaa
Donor marginally increased	64926	wt: 0.3947 / mu: 0.4315 (marginal change - not scored)	wt: TATAAGCCGAAAGCT mu: TATAAGCCAAAAGCT	TAAG\|ccga
Donor increased	64933	wt: 0.53 / mu: 0.69	wt: CGAAAGCTAAAACGA mu: CAAAAGCTAAAACGA	AAAG\|ctaa
Donor increased	64925	wt: 0.81 / mu: 0.99	wt: GTATAAGCCGAAAGC mu: GTATAAGCCAAAAGC	ATAA\|gccg
Donor marginally increased	64932	wt: 0.9817 / mu: 0.9865 (marginal change - not scored)	wt: CCGAAAGCTAAAACG mu: CCAAAAGCTAAAACG	GAAA\|gcta

distance from splice site

2482

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
259	407	DOMAIN	Ferric oxidoreductase.	might get lost (downstream of altered splice site)
393	413	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
409	409	METAL	Iron (heme axial ligand) (By similarity).	might get lost (downstream of altered splice site)
432	452	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

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

strand

last intron/exon boundary

1355

theoretical NMD boundary in CDS

1135

length of CDS

1260

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

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

N/A

altered cDNA sequence snippet

N/A

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 FSFIQIFCSF ADTQTELELE FVFLLTLLL*

mutated AA sequence

N/A

speed

0.25 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