MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000262367
Querying Taster for transcript #2: ENST00000382070
MT speed 0.84 s - this script 3.492206 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000382070	CREBBP	Deleterious	10\|0	complex_aae		No	Yes		R1966*	Single base exchange		Strongly truncated protein, might cause NMD (-439 AA / more than 10% missing)	Amino acid sequence changed Known disease mutation: ClinVar ID 265084 (pathogenic) Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000262367(MANE Select)	CREBBP	Deleterious	10\|0	complex_aae		No	Yes		R2004*	Single base exchange		Strongly truncated protein, might cause NMD (-439 AA / more than 10% missing)	Amino acid sequence changed Known disease mutation: ClinVar ID 265084 (pathogenic) Protein features (might be) affected Truncated protein (might cause NMD)

MutationT@ster 2025

Variant:

16:3729037G>A_2_ENST00000382070

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 265084 (pathogenic)
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr16:3729037G>A (GRCh38)

Gene symbol

CREBBP

Gene constraints

LOEUF: 0.10, LOF (oe): 0.06, misssense (oe): 0.78, synonymous (oe): 1.16 ? (gnomAD)

Ensembl transcript ID

ENST00000382070.7

Genbank transcript ID

NM_001079846 (by similarity)

UniProt / AlphaMissense peptide

CBP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5896C>T
g.151677C>T

AA changes

AAE:

R1966*

P1967-

N1968-

Q1969-

V1970-

S1971-

G1972-

P1973-

V1974-

M1975-

P1976-

S1977-

M1978-

P1979-

P1980-

G1981-

Q1982-

W1983-

Q1984-

Q1985-

A1986-

P1987-

L1988-

P1989-

Q1990-

Q1991-

Q1992-

P1993-

M1994-

P1995-

G1996-

L1997-

P1998-

R1999-

P2000-

V2001-

I2002-

S2003-

M2004-

Q2005-

A2006-

Q2007-

A2008-

A2009-

V2010-

A2011-

G2012-

P2013-

R2014-

M2015-

P2016-

S2017-

V2018-

Q2019-

P2020-

P2021-

R2022-

S2023-

I2024-

S2025-

P2026-

S2027-

A2028-

L2029-

Q2030-

D2031-

L2032-

L2033-

R2034-

T2035-

L2036-

K2037-

S2038-

P2039-

S2040-

S2041-

P2042-

Q2043-

Q2044-

Q2045-

Q2046-

Q2047-

V2048-

L2049-

N2050-

I2051-

L2052-

K2053-

S2054-

N2055-

P2056-

Q2057-

L2058-

M2059-

A2060-

A2061-

F2062-

I2063-

K2064-

Q2065-

R2066-

T2067-

A2068-

K2069-

Y2070-

V2071-

A2072-

N2073-

Q2074-

P2075-

G2076-

M2077-

Q2078-

P2079-

Q2080-

P2081-

G2082-

L2083-

Q2084-

S2085-

Q2086-

P2087-

G2088-

M2089-

Q2090-

P2091-

Q2092-

P2093-

G2094-

M2095-

H2096-

Q2097-

Q2098-

P2099-

S2100-

L2101-

Q2102-

N2103-

L2104-

N2105-

A2106-

M2107-

Q2108-

A2109-

G2110-

V2111-

P2112-

R2113-

P2114-

G2115-

V2116-

P2117-

P2118-

Q2119-

Q2120-

Q2121-

A2122-

M2123-

G2124-

G2125-

L2126-

N2127-

P2128-

Q2129-

G2130-

Q2131-

A2132-

L2133-

N2134-

I2135-

M2136-

N2137-

P2138-

G2139-

H2140-

N2141-

P2142-

N2143-

M2144-

A2145-

S2146-

M2147-

N2148-

P2149-

Q2150-

Y2151-

R2152-

E2153-

M2154-

L2155-

R2156-

R2157-

Q2158-

L2159-

L2160-

Q2161-

Q2162-

Q2163-

Q2164-

Q2165-

Q2166-

Q2167-

Q2168-

Q2169-

Q2170-

Q2171-

Q2172-

Q2173-

Q2174-

Q2175-

Q2176-

Q2177-

Q2178-

G2179-

S2180-

A2181-

G2182-

M2183-

A2184-

G2185-

G2186-

M2187-

A2188-

G2189-

H2190-

G2191-

Q2192-

F2193-

Q2194-

Q2195-

P2196-

Q2197-

G2198-

P2199-

G2200-

G2201-

Y2202-

P2203-

P2204-

A2205-

M2206-

Q2207-

Q2208-

Q2209-

Q2210-

R2211-

M2212-

Q2213-

Q2214-

H2215-

L2216-

P2217-

L2218-

Q2219-

G2220-

S2221-

S2222-

M2223-

G2224-

Q2225-

M2226-

A2227-

A2228-

Q2229-

M2230-

G2231-

Q2232-

L2233-

G2234-

Q2235-

M2236-

G2237-

Q2238-

P2239-

G2240-

L2241-

G2242-

A2243-

D2244-

S2245-

T2246-

P2247-

N2248-

I2249-

Q2250-

Q2251-

A2252-

L2253-

Q2254-

Q2255-

R2256-

I2257-

L2258-

Q2259-

Q2260-

Q2261-

Q2262-

M2263-

K2264-

Q2265-

Q2266-

I2267-

G2268-

S2269-

P2270-

G2271-

Q2272-

P2273-

N2274-

P2275-

M2276-

S2277-

P2278-

Q2279-

Q2280-

H2281-

M2282-

L2283-

S2284-

G2285-

Q2286-

P2287-

Q2288-

A2289-

S2290-

H2291-

L2292-

P2293-

G2294-

Q2295-

Q2296-

I2297-

A2298-

T2299-

S2300-

L2301-

S2302-

N2303-

Q2304-

V2305-

R2306-

S2307-

P2308-

A2309-

P2310-

V2311-

Q2312-

S2313-

P2314-

R2315-

P2316-

Q2317-

S2318-

Q2319-

P2320-

P2321-

H2322-

S2323-

S2324-

P2325-

S2326-

P2327-

R2328-

I2329-

Q2330-

P2331-

Q2332-

P2333-

S2334-

P2335-

H2336-

H2337-

V2338-

S2339-

P2340-

Q2341-

T2342-

G2343-

S2344-

P2345-

H2346-

P2347-

G2348-

L2349-

A2350-

V2351-

T2352-

M2353-

A2354-

S2355-

S2356-

I2357-

D2358-

Q2359-

G2360-

H2361-

L2362-

G2363-

N2364-

P2365-

E2366-

Q2367-

S2368-

A2369-

M2370-

L2371-

P2372-

Q2373-

L2374-

N2375-

T2376-

P2377-

S2378-

R2379-

S2380-

A2381-

L2382-

S2383-

S2384-

E2385-

L2386-

S2387-

L2388-

V2389-

G2390-

D2391-

T2392-

T2393-

G2394-

D2395-

T2396-

L2397-

E2398-

K2399-

F2400-

V2401-

E2402-

G2403-

L2404-

*2405-

?

Score:

-

Frameshift

No

Length of protein

Strongly truncated protein, might cause NMD (-439 AA / more than 10% missing)

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs886039331
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		1966	S	Q	M	A	P	V	S	L	N	V	P	R	P	N	Q	V	S	G	P	V	M	P	S	M	P	P	G	Q	W	Q	Q	A	P	L	P	Q	Q	Q	P	M	P	G	L	P	R	P	V	I	S	M	Q	A	Q	A	A	V	A	G	P	R	M	P	S	V	Q	P	P	R	S	I	S	P	S	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M	A	A	F	I	K	Q	R	T	A	K	Y	V	A	N	Q	P	G	M	Q	P	Q	P	G	L	Q	S	Q	P
mutated	partly conserved	566				V	T	Q	D	L	R	S	H	L	V	H	K	L	V	Q	A	I	F	P	T	P	D	PAALKDRRMENLVAYAKKVE	G	D	M	Y	E	S	A	N	S	R	D	E	Y	Y	H	L	L	A	E	K	I	Y	K	I	Q	K	E	L	E	E	K	R	R	S	R	L	H	K	Q	G	I	L	G	N	Q	P	A	L	P	A	P	G	A	Q	P	P	V	I	P	Q	A	Q	P	V	R	P	P	N	G	P	L	S	L	P	V	N	R	M
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
2	2442	CHAIN		lost
1953	1967	HELIX		lost
1977	2008	COMPBIAS	Polar residues	lost
1977	2028	REGION		lost
2063	2063	MOD_RES	Phosphoserine	lost
2063	2065	TURN		lost
2068	2070	HELIX		lost
2071	2073	HELIX		lost
2076	2076	MOD_RES	Phosphoserine	lost
2079	2079	MOD_RES	Phosphoserine	lost
2080	2092	HELIX		lost
2094	2103	HELIX		lost
2104	2106	TURN		lost
2112	2145	COMPBIAS	Polar residues	lost
2112	2263	REGION		lost
2160	2186	COMPBIAS	Polar residues	lost
2193	2220	COMPBIAS	Polar residues	lost
2239	2263	COMPBIAS	Polar residues	lost
2294	2350	COMPBIAS	Polar residues	lost
2294	2433	REGION		lost
2351	2351	MOD_RES	Phosphoserine	lost
2351	2378	COMPBIAS	Pro residues	lost
2395	2429	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.702	0.998
	4.719	1
(flanking)	0.452	0.999

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGG

Altered gDNA sequence snippet

CCGTGAGCCTGAATGTGCCCTGACCCAACCAGGTGAGCGGG

Original cDNA sequence snippet

CCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGG

Altered cDNA sequence snippet

CCGTGAGCCTGAATGTGCCCTGACCCAACCAGGTGAGCGGG

Wildtype AA sequence

MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV
PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK
SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN
FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA
ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK
QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL
LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQAILGS PASGIQNTIG
SVGTGQQNAT SLSNPNPIDP SSMQRAYAAL GLPYMNQPQT QLQPQVPGQQ PAQPQTHQQM
RTLNPLGNNP MNIPAGGITT DQQPPNLISE SALPTSLGAT NPLMNDGSNS GNIGTLSTIP
TAAPPSSTGV RKGWHEHVTQ DLRSHLVHKL VQAIFPTPDP AALKDRRMEN LVAYAKKVEG
DMYESANSRD EYYHLLAEKI YKIQKELEEK RRSRLHKQGI LGNQPALPAP GAQPPVIPQA
QPVRPPNGPL SLPVNRMQVS QGMNSFNPMS LGNVQLPQAP MGPRAASPMN HSVQMNSMGS
VPGMAISPSR MPQPPNMMGA HTNNMMAQAP AQSQFLPQNQ FPSSSGAMSV GMGQPPAQTG
VSQGQVPGAA LPNPLNMLGP QASQLPCPPV TQSPLHPTPP PASTAAGMPS LQHTTPPGMT
PPQPAAPTQP STPVSSSGQT PTPTPGSVPS ATQTQSTPTV QAAAQAQVTP QPQTPVQPPS
VATPQSSQQQ PTPVHAQPPG TPLSQAAASI DNRVPTPSSV ASAETNSQQP GPDVPVLEMK
TETQAEDTEP DPGESKGEPR SEMMEEDLQG ASQVKEETDI AEQKSEPMEV DEKKPEVKVE
VKEEEESSSN GTASQSTSPS QPRKKIFKPE ELRQALMPTL EALYRQDPES LPFRQPVDPQ
LLGIPDYFDI VKNPMDLSTI KRKLDTGQYQ EPWQYVDDVW LMFNNAWLYN RKTSRVYKFC
SKLAEVFEQE IDPVMQSLGY CCGRKYEFSP QTLCCYGKQL CTIPRDAAYY SYQNRYHFCE
KCFTEIQGEN VTLGDDPSQP QTTISKDQFE KKKNDTLDPE PFVDCKECGR KMHQICVLHY
DIIWPSGFVC DNCLKKTGRP RKENKFSAKR LQTTRLGNHL EDRVNKFLRR QNHPEAGEVF
VRVVASSDKT VEVKPGMKSR FVDSGEMSES FPYRTKALFA FEEIDGVDVC FFGMHVQEYG
SDCPPPNTRR VYISYLDSIH FFRPRCLRTA VYHEILIGYL EYVKKLGYVT GHIWACPPSE
GDDYIFHCHP PDQKIPKPKR LQEWYKKMLD KAFAERIIHD YKDIFKQATE DRLTSAKELP
YFEGDFWPNV LEESIKELEQ EEEERKKEES TAASETTEGS QGDSKNAKKK NNKKTNKNKS
SISRANKKKP SMPNVSNDLS QKLYATMEKH KEVFFVIHLH AGPVINTLPP IVDPDPLLSC
DLMDGRDAFL TLARDKHWEF SSLRRSKWST LCMLVELHTQ GQDRFVYTCN ECKHHVETRW
HCTVCEDYDL CINCYNTKSH AHKMVKWGLG LDDEGSSQGE PQSKSPQESR RLSIQRCIQS
LVHACQCRNA NCSLPSCQKM KRVVQHTKGC KRKTNGGCPV CKQLIALCCY HAKHCQENKC
PVPFCLNIKH KLRQQQIQHR LQQAQLMRRR MATMNTRNVP QQSLPSPTSA PPGTPTQQPS
TPQTPQPPAQ PQPSPVSMSP AGFPSVARTQ PPTTVSTGKP TSQVPAPPPP AQPPPAAVEA
ARQIEREAQQ QQHLYRVNIN NSMPPGRTGM GTPGSQMAPV SLNVPRPNQV SGPVMPSMPP
GQWQQAPLPQ QQPMPGLPRP VISMQAQAAV AGPRMPSVQP PRSISPSALQ DLLRTLKSPS
SPQQQQQVLN ILKSNPQLMA AFIKQRTAKY VANQPGMQPQ PGLQSQPGMQ PQPGMHQQPS
LQNLNAMQAG VPRPGVPPQQ QAMGGLNPQG QALNIMNPGH NPNMASMNPQ YREMLRRQLL
QQQQQQQQQQ QQQQQQQQGS AGMAGGMAGH GQFQQPQGPG GYPPAMQQQQ RMQQHLPLQG
SSMGQMAAQM GQLGQMGQPG LGADSTPNIQ QALQQRILQQ QQMKQQIGSP GQPNPMSPQQ
HMLSGQPQAS HLPGQQIATS LSNQVRSPAP VQSPRPQSQP PHSSPSPRIQ PQPSPHHVSP
QTGSPHPGLA VTMASSIDQG HLGNPEQSAM LPQLNTPSRS ALSSELSLVG DTTGDTLEKF
VEGL*

Mutated AA sequence

MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV
PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK
SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN
FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA
ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK
QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL
LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQAILGS PASGIQNTIG
SVGTGQQNAT SLSNPNPIDP SSMQRAYAAL GLPYMNQPQT QLQPQVPGQQ PAQPQTHQQM
RTLNPLGNNP MNIPAGGITT DQQPPNLISE SALPTSLGAT NPLMNDGSNS GNIGTLSTIP
TAAPPSSTGV RKGWHEHVTQ DLRSHLVHKL VQAIFPTPDP AALKDRRMEN LVAYAKKVEG
DMYESANSRD EYYHLLAEKI YKIQKELEEK RRSRLHKQGI LGNQPALPAP GAQPPVIPQA
QPVRPPNGPL SLPVNRMQVS QGMNSFNPMS LGNVQLPQAP MGPRAASPMN HSVQMNSMGS
VPGMAISPSR MPQPPNMMGA HTNNMMAQAP AQSQFLPQNQ FPSSSGAMSV GMGQPPAQTG
VSQGQVPGAA LPNPLNMLGP QASQLPCPPV TQSPLHPTPP PASTAAGMPS LQHTTPPGMT
PPQPAAPTQP STPVSSSGQT PTPTPGSVPS ATQTQSTPTV QAAAQAQVTP QPQTPVQPPS
VATPQSSQQQ PTPVHAQPPG TPLSQAAASI DNRVPTPSSV ASAETNSQQP GPDVPVLEMK
TETQAEDTEP DPGESKGEPR SEMMEEDLQG ASQVKEETDI AEQKSEPMEV DEKKPEVKVE
VKEEEESSSN GTASQSTSPS QPRKKIFKPE ELRQALMPTL EALYRQDPES LPFRQPVDPQ
LLGIPDYFDI VKNPMDLSTI KRKLDTGQYQ EPWQYVDDVW LMFNNAWLYN RKTSRVYKFC
SKLAEVFEQE IDPVMQSLGY CCGRKYEFSP QTLCCYGKQL CTIPRDAAYY SYQNRYHFCE
KCFTEIQGEN VTLGDDPSQP QTTISKDQFE KKKNDTLDPE PFVDCKECGR KMHQICVLHY
DIIWPSGFVC DNCLKKTGRP RKENKFSAKR LQTTRLGNHL EDRVNKFLRR QNHPEAGEVF
VRVVASSDKT VEVKPGMKSR FVDSGEMSES FPYRTKALFA FEEIDGVDVC FFGMHVQEYG
SDCPPPNTRR VYISYLDSIH FFRPRCLRTA VYHEILIGYL EYVKKLGYVT GHIWACPPSE
GDDYIFHCHP PDQKIPKPKR LQEWYKKMLD KAFAERIIHD YKDIFKQATE DRLTSAKELP
YFEGDFWPNV LEESIKELEQ EEEERKKEES TAASETTEGS QGDSKNAKKK NNKKTNKNKS
SISRANKKKP SMPNVSNDLS QKLYATMEKH KEVFFVIHLH AGPVINTLPP IVDPDPLLSC
DLMDGRDAFL TLARDKHWEF SSLRRSKWST LCMLVELHTQ GQDRFVYTCN ECKHHVETRW
HCTVCEDYDL CINCYNTKSH AHKMVKWGLG LDDEGSSQGE PQSKSPQESR RLSIQRCIQS
LVHACQCRNA NCSLPSCQKM KRVVQHTKGC KRKTNGGCPV CKQLIALCCY HAKHCQENKC
PVPFCLNIKH KLRQQQIQHR LQQAQLMRRR MATMNTRNVP QQSLPSPTSA PPGTPTQQPS
TPQTPQPPAQ PQPSPVSMSP AGFPSVARTQ PPTTVSTGKP TSQVPAPPPP AQPPPAAVEA
ARQIEREAQQ QQHLYRVNIN NSMPPGRTGM GTPGSQMAPV SLNVP*

Position of stopcodon in wt / mu CDS

7215 / 5898

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

2405 / 1966

Position of stopcodon in wt / mu cDNA

7419 / 6102

Position of start ATG in wt / mu cDNA

205 / 205

Last intron/exon boundary

5262

Theoretical NMD boundary in CDS

5007

Length of CDS

7215

Coding sequence (CDS) position

5896

cDNA position

6100

gDNA position

151677

Chromosomal position

3729037

Speed

0.53 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

16:3729037G>A_1_ENST00000262367

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 265084 (pathogenic)
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr16:3729037G>A (GRCh38)

Gene symbol

CREBBP

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.77, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000262367.10

Genbank transcript ID

NM_004380 (exact from MANE)

UniProt / AlphaMissense peptide

CBP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.6010C>T
g.151677C>T

AA changes

AAE:

R2004*

P2005-

N2006-

Q2007-

V2008-

S2009-

G2010-

P2011-

V2012-

M2013-

P2014-

S2015-

M2016-

P2017-

P2018-

G2019-

Q2020-

W2021-

Q2022-

Q2023-

A2024-

P2025-

L2026-

P2027-

Q2028-

Q2029-

Q2030-

P2031-

M2032-

P2033-

G2034-

L2035-

P2036-

R2037-

P2038-

V2039-

I2040-

S2041-

M2042-

Q2043-

A2044-

Q2045-

A2046-

A2047-

V2048-

A2049-

G2050-

P2051-

R2052-

M2053-

P2054-

S2055-

V2056-

Q2057-

P2058-

P2059-

R2060-

S2061-

I2062-

S2063-

P2064-

S2065-

A2066-

L2067-

Q2068-

D2069-

L2070-

L2071-

R2072-

T2073-

L2074-

K2075-

S2076-

P2077-

S2078-

S2079-

P2080-

Q2081-

Q2082-

Q2083-

Q2084-

Q2085-

V2086-

L2087-

N2088-

I2089-

L2090-

K2091-

S2092-

N2093-

P2094-

Q2095-

L2096-

M2097-

A2098-

A2099-

F2100-

I2101-

K2102-

Q2103-

R2104-

T2105-

A2106-

K2107-

Y2108-

V2109-

A2110-

N2111-

Q2112-

P2113-

G2114-

M2115-

Q2116-

P2117-

Q2118-

P2119-

G2120-

L2121-

Q2122-

S2123-

Q2124-

P2125-

G2126-

M2127-

Q2128-

P2129-

Q2130-

P2131-

G2132-

M2133-

H2134-

Q2135-

Q2136-

P2137-

S2138-

L2139-

Q2140-

N2141-

L2142-

N2143-

A2144-

M2145-

Q2146-

A2147-

G2148-

V2149-

P2150-

R2151-

P2152-

G2153-

V2154-

P2155-

P2156-

Q2157-

Q2158-

Q2159-

A2160-

M2161-

G2162-

G2163-

L2164-

N2165-

P2166-

Q2167-

G2168-

Q2169-

A2170-

L2171-

N2172-

I2173-

M2174-

N2175-

P2176-

G2177-

H2178-

N2179-

P2180-

N2181-

M2182-

A2183-

S2184-

M2185-

N2186-

P2187-

Q2188-

Y2189-

R2190-

E2191-

M2192-

L2193-

R2194-

R2195-

Q2196-

L2197-

L2198-

Q2199-

Q2200-

Q2201-

Q2202-

Q2203-

Q2204-

Q2205-

Q2206-

Q2207-

Q2208-

Q2209-

Q2210-

Q2211-

Q2212-

Q2213-

Q2214-

Q2215-

Q2216-

G2217-

S2218-

A2219-

G2220-

M2221-

A2222-

G2223-

G2224-

M2225-

A2226-

G2227-

H2228-

G2229-

Q2230-

F2231-

Q2232-

Q2233-

P2234-

Q2235-

G2236-

P2237-

G2238-

G2239-

Y2240-

P2241-

P2242-

A2243-

M2244-

Q2245-

Q2246-

Q2247-

Q2248-

R2249-

M2250-

Q2251-

Q2252-

H2253-

L2254-

P2255-

L2256-

Q2257-

G2258-

S2259-

S2260-

M2261-

G2262-

Q2263-

M2264-

A2265-

A2266-

Q2267-

M2268-

G2269-

Q2270-

L2271-

G2272-

Q2273-

M2274-

G2275-

Q2276-

P2277-

G2278-

L2279-

G2280-

A2281-

D2282-

S2283-

T2284-

P2285-

N2286-

I2287-

Q2288-

Q2289-

A2290-

L2291-

Q2292-

Q2293-

R2294-

I2295-

L2296-

Q2297-

Q2298-

Q2299-

Q2300-

M2301-

K2302-

Q2303-

Q2304-

I2305-

G2306-

S2307-

P2308-

G2309-

Q2310-

P2311-

N2312-

P2313-

M2314-

S2315-

P2316-

Q2317-

Q2318-

H2319-

M2320-

L2321-

S2322-

G2323-

Q2324-

P2325-

Q2326-

A2327-

S2328-

H2329-

L2330-

P2331-

G2332-

Q2333-

Q2334-

I2335-

A2336-

T2337-

S2338-

L2339-

S2340-

N2341-

Q2342-

V2343-

R2344-

S2345-

P2346-

A2347-

P2348-

V2349-

Q2350-

S2351-

P2352-

R2353-

P2354-

Q2355-

S2356-

Q2357-

P2358-

P2359-

H2360-

S2361-

S2362-

P2363-

S2364-

P2365-

R2366-

I2367-

Q2368-

P2369-

Q2370-

P2371-

S2372-

P2373-

H2374-

H2375-

V2376-

S2377-

P2378-

Q2379-

T2380-

G2381-

S2382-

P2383-

H2384-

P2385-

G2386-

L2387-

A2388-

V2389-

T2390-

M2391-

A2392-

S2393-

S2394-

I2395-

D2396-

Q2397-

G2398-

H2399-

L2400-

G2401-

N2402-

P2403-

E2404-

Q2405-

S2406-

A2407-

M2408-

L2409-

P2410-

Q2411-

L2412-

N2413-

T2414-

P2415-

S2416-

R2417-

S2418-

A2419-

L2420-

S2421-

S2422-

E2423-

L2424-

S2425-

L2426-

V2427-

G2428-

D2429-

T2430-

T2431-

G2432-

D2433-

T2434-

L2435-

E2436-

K2437-

F2438-

V2439-

E2440-

G2441-

L2442-

*2443-

?

Score:

-

Frameshift

No

Length of protein

Strongly truncated protein, might cause NMD (-439 AA / more than 10% missing)

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs886039331
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2004	S	Q	M	A	P	V	S	L	N	V	P	R	P	N	Q	V	S	G	P	V	M	P	S	M	P	P	G	Q	W	Q	Q	A	P	L	P	Q	Q	Q	P	M	P	G	L	P	R	P	V	I	S	M	Q	A	Q	A	A	V	A	G	P	R	M	P	S	V	Q	P	P	R	S	I	S	P	S	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M	A	A	F	I	K	Q	R	T	A	K	Y	V	A	N	Q	P	G	M	Q	P	Q	P	G	L	Q	S	Q	P
mutated	partly conserved	604	H	E	H	V	T	Q	D	L	R	S	H	L	V	H	K	L	V	Q	A	I	F	P	T	P	D	PAALKDRRMENLVAYAKKVE	G	D	M	Y	E	S	A	N	S	R	D	E	Y	Y	H	L	L	A	E	K	I	Y	K	I	Q	K	E	L	E	E	K	R	R	S	R	L	H	K	Q	G	I	L	G	N	Q	P	A	L	P	A	P	G	A	Q	P	P	V	I	P	Q	A	Q	P	V
Ptroglodytes	all identical	2004	S	Q	M	A	P	V	S	L	N	V	P	R	P	N	Q	V	S	G	P	V	M	P	S	M	P	P	G	Q	W	Q	Q	A	P	L	P	Q	Q	Q	P	M	P	G	L	P	R	P	V	I	S	M	Q	A	Q	A	A	V	A	G	P	R	M	P	S	V	Q	P	P	R	S	I	S	P	S	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M	A	A	F
Mmulatta	all identical	2004	S	Q	M	A	P	V	S	L	N	V	P	R	P	N	Q	V	S	G	P	V	M	P	S	M	P	P	G	Q	W	Q	Q	A	P	L	P	Q	Q	Q	P	M	P	G	L	P	R	P	V	I	S	M	Q	A	Q	A	A	V	A	G	P	R	M	P	S	V	Q	P	P	R	S	I	S	P	S	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M	A	A	F
Fcatus	partly conserved	2007	G	Q	M	A	P	A	G	L	N	V	P	R	P	G	P	V	S	G	P	V	V	P	N	L	P	P	G	Q	W	Q	Q	A	P	L	P	Q	Q	Q	P	M	P	G	M	P	R	P	V	M	S	M	Q	A	Q	P	A	V	A	G	P	R	M	P	S	V	Q	P	P	R	S	I	S	P	G	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M
Mmusculus	partly conserved	2005	S	Q	M	T	P	V	G	L	N	V	P	R	P	N	Q	V	S	G	P	V	M	S	S	M	P	P	G	Q	W	Q	Q	A	P	I	P	Q	Q	Q	P	M	P	G	M	P	R	P	V	M	S	M	Q	A	Q	A	A	V	A	G	P	R	M	P	N	V	Q	P	P	R	S	I	S	P	S	A	L	Q	D	L	L	R	T	L	K	S	P	S	S	P	Q	Q	Q	Q	Q	V	L	N	I	L	K	S	N	P	Q	L	M
Ggallus	partly conserved	2028	S	Q	M	Q	Q	V	G	M	N	V	P	R	P	S	P	V	S	G	P	V	M	S	N	M	Q	P	G	Q	W	Q	S	P	P	M	P	Q	Q	Q	A	M	Q	P	G	M	A	R	P	V	M	P	M	A	T	A	Q	A	V	A	G	P	R	M	P	G	V	Q	Q	P	P	R	S	I	P
Trubripes	partly conserved	3147	-	P	V	Q	P	S	M	Q	M	V	P	G	P	R	G	A	Q	-	V	M	Q	P	G	M	T	P	G	Q	W	P	G	A	A	G	P	I	Q	A	V	Q	N	P	Q	G	L	V	P	G	Q	T	P	Q	Q	P	M	T	M	Q	R	A	M	M	T	P	G	Q	Q	P	Q	Q	P	A	R
Drerio	no homologue
Dmelanogaster	partly conserved	2677	G	G	V	G	G	V	G	V	N	Q	L	N	S	G	G	G	N	T	P	G	A	P	I	S	G	P	GMNVNHLMSMD	Q	W	G	G	G	G	A	G	G	G	G	A	N	P	G	G	G	N	P	-	-	-	-	Q	A	R	Y	A	N	N	T	G	G	M	R	Q	P	T	H	V	M	Q	T	N	L	I	P	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	P	Q	Q	Q	Q	Q	M	M	G	G
Celegans	partly conserved	2243		Q	Q	Q	P	MYSS	G	M	P	M	Q	R	P	G	G	L	G	G	-	M	N	P	Q	Q	Q	P	Q	Q	Q	Q	G	H	PGLQNPGGRPGGVHG	M	G	Q	N	Q	P	V	R	N	N	Q	D	M	V	M	N	M	Q	M	Q	N	Q	H	Q	Q	P	-	-	-	-	-	P	P	F	D	S	T	L	Q	P	Q	I	M	K	I	N	S	R	L	K	A	A	K	T	E	E	E	R	E	T	V	F	S	D	L	K	K	T	P	H	L
Xtropicalis	partly conserved	2000	N	P	M	Q	Q	M	A	M	N	V	P	R	P	G	P	I	G	AP	P	I	M	A	G	M	Q	P	G	Q	W	P	A	A	Q	L	P	Q	Q	P	Q	M	Q	Q	S	I	Q	R	P	V	M	Q	M	A	T	A	Q	Q	A	V	A	G	P	R	L	A	G	V	P	P	Q	Q	A	R	N	I	A	P	A	P	N	A

Protein features

Start (aa)	End (aa)	Feature	Details
2	2442	CHAIN		lost
1977	2008	COMPBIAS	Polar residues	lost
1977	2028	REGION		lost
2063	2063	MOD_RES	Phosphoserine	lost
2063	2065	TURN		lost
2068	2070	HELIX		lost
2071	2073	HELIX		lost
2076	2076	MOD_RES	Phosphoserine	lost
2079	2079	MOD_RES	Phosphoserine	lost
2080	2092	HELIX		lost
2094	2103	HELIX		lost
2104	2106	TURN		lost
2112	2145	COMPBIAS	Polar residues	lost
2112	2263	REGION		lost
2160	2186	COMPBIAS	Polar residues	lost
2193	2220	COMPBIAS	Polar residues	lost
2239	2263	COMPBIAS	Polar residues	lost
2294	2350	COMPBIAS	Polar residues	lost
2294	2433	REGION		lost
2351	2351	MOD_RES	Phosphoserine	lost
2351	2378	COMPBIAS	Pro residues	lost
2395	2429	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.702	0.998
	4.719	1
(flanking)	0.452	0.999

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGG

Altered gDNA sequence snippet

CCGTGAGCCTGAATGTGCCCTGACCCAACCAGGTGAGCGGG

Original cDNA sequence snippet

CCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGG

Altered cDNA sequence snippet

CCGTGAGCCTGAATGTGCCCTGACCCAACCAGGTGAGCGGG

Wildtype AA sequence

MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV
PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK
SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN
FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA
ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK
QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL
LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQVAHCA SSRQIISHWK
NCTRHDCPVC LPLKNASDKR NQQTILGSPA SGIQNTIGSV GTGQQNATSL SNPNPIDPSS
MQRAYAALGL PYMNQPQTQL QPQVPGQQPA QPQTHQQMRT LNPLGNNPMN IPAGGITTDQ
QPPNLISESA LPTSLGATNP LMNDGSNSGN IGTLSTIPTA APPSSTGVRK GWHEHVTQDL
RSHLVHKLVQ AIFPTPDPAA LKDRRMENLV AYAKKVEGDM YESANSRDEY YHLLAEKIYK
IQKELEEKRR SRLHKQGILG NQPALPAPGA QPPVIPQAQP VRPPNGPLSL PVNRMQVSQG
MNSFNPMSLG NVQLPQAPMG PRAASPMNHS VQMNSMGSVP GMAISPSRMP QPPNMMGAHT
NNMMAQAPAQ SQFLPQNQFP SSSGAMSVGM GQPPAQTGVS QGQVPGAALP NPLNMLGPQA
SQLPCPPVTQ SPLHPTPPPA STAAGMPSLQ HTTPPGMTPP QPAAPTQPST PVSSSGQTPT
PTPGSVPSAT QTQSTPTVQA AAQAQVTPQP QTPVQPPSVA TPQSSQQQPT PVHAQPPGTP
LSQAAASIDN RVPTPSSVAS AETNSQQPGP DVPVLEMKTE TQAEDTEPDP GESKGEPRSE
MMEEDLQGAS QVKEETDIAE QKSEPMEVDE KKPEVKVEVK EEEESSSNGT ASQSTSPSQP
RKKIFKPEEL RQALMPTLEA LYRQDPESLP FRQPVDPQLL GIPDYFDIVK NPMDLSTIKR
KLDTGQYQEP WQYVDDVWLM FNNAWLYNRK TSRVYKFCSK LAEVFEQEID PVMQSLGYCC
GRKYEFSPQT LCCYGKQLCT IPRDAAYYSY QNRYHFCEKC FTEIQGENVT LGDDPSQPQT
TISKDQFEKK KNDTLDPEPF VDCKECGRKM HQICVLHYDI IWPSGFVCDN CLKKTGRPRK
ENKFSAKRLQ TTRLGNHLED RVNKFLRRQN HPEAGEVFVR VVASSDKTVE VKPGMKSRFV
DSGEMSESFP YRTKALFAFE EIDGVDVCFF GMHVQEYGSD CPPPNTRRVY ISYLDSIHFF
RPRCLRTAVY HEILIGYLEY VKKLGYVTGH IWACPPSEGD DYIFHCHPPD QKIPKPKRLQ
EWYKKMLDKA FAERIIHDYK DIFKQATEDR LTSAKELPYF EGDFWPNVLE ESIKELEQEE
EERKKEESTA ASETTEGSQG DSKNAKKKNN KKTNKNKSSI SRANKKKPSM PNVSNDLSQK
LYATMEKHKE VFFVIHLHAG PVINTLPPIV DPDPLLSCDL MDGRDAFLTL ARDKHWEFSS
LRRSKWSTLC MLVELHTQGQ DRFVYTCNEC KHHVETRWHC TVCEDYDLCI NCYNTKSHAH
KMVKWGLGLD DEGSSQGEPQ SKSPQESRRL SIQRCIQSLV HACQCRNANC SLPSCQKMKR
VVQHTKGCKR KTNGGCPVCK QLIALCCYHA KHCQENKCPV PFCLNIKHKL RQQQIQHRLQ
QAQLMRRRMA TMNTRNVPQQ SLPSPTSAPP GTPTQQPSTP QTPQPPAQPQ PSPVSMSPAG
FPSVARTQPP TTVSTGKPTS QVPAPPPPAQ PPPAAVEAAR QIEREAQQQQ HLYRVNINNS
MPPGRTGMGT PGSQMAPVSL NVPRPNQVSG PVMPSMPPGQ WQQAPLPQQQ PMPGLPRPVI
SMQAQAAVAG PRMPSVQPPR SISPSALQDL LRTLKSPSSP QQQQQVLNIL KSNPQLMAAF
IKQRTAKYVA NQPGMQPQPG LQSQPGMQPQ PGMHQQPSLQ NLNAMQAGVP RPGVPPQQQA
MGGLNPQGQA LNIMNPGHNP NMASMNPQYR EMLRRQLLQQ QQQQQQQQQQ QQQQQQGSAG
MAGGMAGHGQ FQQPQGPGGY PPAMQQQQRM QQHLPLQGSS MGQMAAQMGQ LGQMGQPGLG
ADSTPNIQQA LQQRILQQQQ MKQQIGSPGQ PNPMSPQQHM LSGQPQASHL PGQQIATSLS
NQVRSPAPVQ SPRPQSQPPH SSPSPRIQPQ PSPHHVSPQT GSPHPGLAVT MASSIDQGHL
GNPEQSAMLP QLNTPSRSAL SSELSLVGDT TGDTLEKFVE GL*

Mutated AA sequence

MAENLLDGPP NPKRAKLSSP GFSANDSTDF GSLFDLENDL PDELIPNGGE LGLLNSGNLV
PDAASKHKQL SELLRGGSGS SINPGIGNVS ASSPVQQGLG GQAQGQPNSA NMASLSAMGK
SPLSQGDSSA PSLPKQAAST SGPTPAASQA LNPQAQKQVG LATSSPATSQ TGPGICMNAN
FNQTHPGLLN SNSGHSLINQ ASQGQAQVMN GSLGAAGRGR GAGMPYPTPA MQGASSSVLA
ETLTQVSPQM TGHAGLNTAQ AGGMAKMGIT GNTSPFGQPF SQAGGQPMGA TGVNPQLASK
QSMVNSLPTF PTDIKNTSVT NVPNMSQMQT SVGIVPTQAI ATGPTADPEK RKLIQQQLVL
LLHAHKCQRR EQANGEVRAC SLPHCRTMKN VLNHMTHCQA GKACQVAHCA SSRQIISHWK
NCTRHDCPVC LPLKNASDKR NQQTILGSPA SGIQNTIGSV GTGQQNATSL SNPNPIDPSS
MQRAYAALGL PYMNQPQTQL QPQVPGQQPA QPQTHQQMRT LNPLGNNPMN IPAGGITTDQ
QPPNLISESA LPTSLGATNP LMNDGSNSGN IGTLSTIPTA APPSSTGVRK GWHEHVTQDL
RSHLVHKLVQ AIFPTPDPAA LKDRRMENLV AYAKKVEGDM YESANSRDEY YHLLAEKIYK
IQKELEEKRR SRLHKQGILG NQPALPAPGA QPPVIPQAQP VRPPNGPLSL PVNRMQVSQG
MNSFNPMSLG NVQLPQAPMG PRAASPMNHS VQMNSMGSVP GMAISPSRMP QPPNMMGAHT
NNMMAQAPAQ SQFLPQNQFP SSSGAMSVGM GQPPAQTGVS QGQVPGAALP NPLNMLGPQA
SQLPCPPVTQ SPLHPTPPPA STAAGMPSLQ HTTPPGMTPP QPAAPTQPST PVSSSGQTPT
PTPGSVPSAT QTQSTPTVQA AAQAQVTPQP QTPVQPPSVA TPQSSQQQPT PVHAQPPGTP
LSQAAASIDN RVPTPSSVAS AETNSQQPGP DVPVLEMKTE TQAEDTEPDP GESKGEPRSE
MMEEDLQGAS QVKEETDIAE QKSEPMEVDE KKPEVKVEVK EEEESSSNGT ASQSTSPSQP
RKKIFKPEEL RQALMPTLEA LYRQDPESLP FRQPVDPQLL GIPDYFDIVK NPMDLSTIKR
KLDTGQYQEP WQYVDDVWLM FNNAWLYNRK TSRVYKFCSK LAEVFEQEID PVMQSLGYCC
GRKYEFSPQT LCCYGKQLCT IPRDAAYYSY QNRYHFCEKC FTEIQGENVT LGDDPSQPQT
TISKDQFEKK KNDTLDPEPF VDCKECGRKM HQICVLHYDI IWPSGFVCDN CLKKTGRPRK
ENKFSAKRLQ TTRLGNHLED RVNKFLRRQN HPEAGEVFVR VVASSDKTVE VKPGMKSRFV
DSGEMSESFP YRTKALFAFE EIDGVDVCFF GMHVQEYGSD CPPPNTRRVY ISYLDSIHFF
RPRCLRTAVY HEILIGYLEY VKKLGYVTGH IWACPPSEGD DYIFHCHPPD QKIPKPKRLQ
EWYKKMLDKA FAERIIHDYK DIFKQATEDR LTSAKELPYF EGDFWPNVLE ESIKELEQEE
EERKKEESTA ASETTEGSQG DSKNAKKKNN KKTNKNKSSI SRANKKKPSM PNVSNDLSQK
LYATMEKHKE VFFVIHLHAG PVINTLPPIV DPDPLLSCDL MDGRDAFLTL ARDKHWEFSS
LRRSKWSTLC MLVELHTQGQ DRFVYTCNEC KHHVETRWHC TVCEDYDLCI NCYNTKSHAH
KMVKWGLGLD DEGSSQGEPQ SKSPQESRRL SIQRCIQSLV HACQCRNANC SLPSCQKMKR
VVQHTKGCKR KTNGGCPVCK QLIALCCYHA KHCQENKCPV PFCLNIKHKL RQQQIQHRLQ
QAQLMRRRMA TMNTRNVPQQ SLPSPTSAPP GTPTQQPSTP QTPQPPAQPQ PSPVSMSPAG
FPSVARTQPP TTVSTGKPTS QVPAPPPPAQ PPPAAVEAAR QIEREAQQQQ HLYRVNINNS
MPPGRTGMGT PGSQMAPVSL NVP*

Position of stopcodon in wt / mu CDS

7329 / 6012

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

2443 / 2004

Position of stopcodon in wt / mu cDNA

8126 / 6809

Position of start ATG in wt / mu cDNA

798 / 798

Last intron/exon boundary

5969

Theoretical NMD boundary in CDS

5121

Length of CDS

7329

Coding sequence (CDS) position

6010

cDNA position

6807

gDNA position

151677

Chromosomal position

3729037

Speed

0.31 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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