(used for variant description)
(last modified October 20, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000789.3 in the ACE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011648.1, covering ACE transcript NM_000789.3.
(upstream sequence)
. . . g.5034
agaaggggcagagccgagcaccgcgcaccgcgtc c.-1
. . . . . . g.5094
ATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTG c.60
M G A A S G R R G P G L L L P L P L L L p.20
. . . . . . g.5154
CTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCT c.120
L L P P Q P A L A L D P G L Q P G N F S p.40
. . . . . . g.5214
GCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTG c.180
A D E A G A Q L F A Q S Y N S S A E Q V p.60
. . . . . . g.5274
CTGTTCCAGAGCGTGGCCGCCAGCTGGGCGCACGACACCAACATCACCGCGGAGAATGCA c.240
L F Q S V A A S W A H D T N I T A E N A p.80
| 02 . . . . . g.5921
AGGCGCCAG | GAGGAAGCAGCCCTGCTCAGCCAGGAGTTTGCGGAGGCCTGGGGCCAGAAG c.300
R R Q | E E A A L L S Q E F A E A W G Q K p.100
. . . . . . g.5981
GCCAAGGAGCTGTATGAACCGATCTGGCAGAACTTCACGGACCCGCAGCTGCGCAGGATC c.360
A K E L Y E P I W Q N F T D P Q L R R I p.120
. . . . . | 03. g.6949
ATCGGAGCTGTGCGCACCCTGGGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAG | TAC c.420
I G A V R T L G S A N L P L A K R Q Q | Y p.140
. . . . . . g.7009
AACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAAC c.480
N A L L S N M S R I Y S T A K V C L P N p.160
. . . | 04 . . . g.7737
AAGACTGCCACCTGCTGGTCCCTGGACCCAG | ATCTCACCAACATCCTGGCTTCCTCGCGA c.540
K T A T C W S L D P D | L T N I L A S S R p.180
. . . . . . g.7797
AGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTG c.600
S Y A M L L F A W E G W H N A A G I P L p.200
. . . . . | 05 . g.8281
AAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACG | GCTTC c.660
K P L Y E D F T A L S N E A Y K Q D G | F p.220
. . . . . . g.8341
ACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTG c.720
T D T G A Y W R S W Y N S P T F E D D L p.240
. . . . . . g.8401
GAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGC c.780
E H L Y Q Q L E P L Y L N L H A F V R R p.260
. . . . . . g.8461
GCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCAT c.840
A L H R R Y G D R Y I N L R G P I P A H p.280
| 06. . . . . . g.9083
CTGCTGG | GAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTC c.900
L L G | D M W A Q S W E N I Y D M V V P F p.300
. . . . | 07 . . g.9520
CCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAG | GGCTGGAACGCCACG c.960
P D K P N L D V T S T M L Q Q | G W N A T p.320
. . . . . . g.9580
CACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCC c.1020
H M F R V A E E F F T S L E L S P M P P p.340
. . . . . . g.9640
GAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCAC c.1080
E F W E G S M L E K P A D G R E V V C H p.360
. . . | 08 . . g.10427
GCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAG | GATCAAGCAGTGCACACGGGTC c.1140
A S A W D F Y N R K D F R | I K Q C T R V p.380
. . . . . . g.10487
ACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAG c.1200
T M D Q L S T V H H E M G H I Q Y Y L Q p.400
. . . . . . g.10547
TACAAGGATCTGCCCGTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATT c.1260
Y K D L P V S L R R G A N P G F H E A I p.420
. . . . . . g.10607
GGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGCTG c.1320
G D V L A L S V S T P E H L H K I G L L p.440
. . | 09 . . . . g.11006
GACCGTGTCACCAATGACACGG | AAAGTGACATCAATTACTTGCTAAAAATGGCACTGGAA c.1380
D R V T N D T E | S D I N Y L L K M A L E p.460
. . . . . . g.11066
AAAATTGCCTTCCTGCCCTTTGGCTACTTGGTGGACCAGTGGCGCTGGGGGGTCTTTAGT c.1440
K I A F L P F G Y L V D Q W R W G V F S p.480
. . . . | 10. . g.11412
GGGCGTACCCCCCCTTCCCGCTACAACTTCGACTGGTGGTATCTTCG | AACCAAGTATCAG c.1500
G R T P P S R Y N F D W W Y L R | T K Y Q p.500
. . . . . . g.11472
GGGATCTGTCCTCCTGTTACCCGAAACGAAACCCACTTTGATGCTGGAGCTAAGTTTCAT c.1560
G I C P P V T R N E T H F D A G A K F H p.520
. . | 11 . . . . g.11822
GTTCCAAATGTGACACCATACATCAG | GTACTTTGTGAGTTTTGTCCTGCAGTTCCAGTTC c.1620
V P N V T P Y I R | Y F V S F V L Q F Q F p.540
. . . . . . g.11882
CATGAAGCCCTGTGCAAGGAGGCAGGCTATGAGGGCCCACTGCACCAGTGTGACATCTAC c.1680
H E A L C K E A G Y E G P L H Q C D I Y p.560
. . | 12 . . . g.12300
CGGTCCACCAAGGCAGGGGCCAAGCTCCG | GAAGGTGCTGCAGGCTGGCTCCTCCAGGCCC c.1740
R S T K A G A K L R | K V L Q A G S S R P p.580
. . . . . . g.12360
TGGCAGGAGGTGCTGAAGGACATGGTCGGCTTAGATGCCCTGGATGCCCAGCCGCTGCTC c.1800
W Q E V L K D M V G L D A L D A Q P L L p.600
. . . . . . g.12420
AAGTACTTCCAGCCAGTCACCCAGTGGCTGCAGGAGCAGAACCAGCAGAACGGCGAGGTC c.1860
K Y F Q P V T Q W L Q E Q N Q Q N G E V p.620
. . . . . . g.12480
CTGGGCTGGCCCGAGTACCAGTGGCACCCGCCGTTGCCTGACAACTACCCGGAGGGCATA c.1920
L G W P E Y Q W H P P L P D N Y P E G I p.640
| 13 . . . . . . g.13234
G | ACCTGGTGACTGATGAGGCTGAGGCCAGCAAGTTTGTGGAGGAATATGACCGGACATCC c.1980
D | L V T D E A E A S K F V E E Y D R T S p.660
. . . . . . g.13294
CAGGTGGTGTGGAACGAGTATGCCGAGGCCAACTGGAACTACAACACCAACATCACCACA c.2040
Q V V W N E Y A E A N W N Y N T N I T T p.680
. | 14 . . . . g.14538
GAGACCAGCAAGATTCTG | CTGCAGAAGAACATGCAAATAGCCAACCACACCCTGAAGTAC c.2100
E T S K I L | L Q K N M Q I A N H T L K Y p.700
. . . . . . g.14598
GGCACCCAGGCCAGGAAGTTTGATGTGAACCAGTTGCAGAACACCACTATCAAGCGGATC c.2160
G T Q A R K F D V N Q L Q N T T I K R I p.720
. . . . . | 15. g.14928
ATAAAGAAGGTTCAGGACCTAGAACGGGCAGCACTGCCTGCCCAGGAGCTGGAGGAG | TAC c.2220
I K K V Q D L E R A A L P A Q E L E E | Y p.740
. . . . . . g.14988
AACAAGATCCTGTTGGATATGGAAACCACCTACAGCGTGGCCACTGTGTGCCACCCGAAT c.2280
N K I L L D M E T T Y S V A T V C H P N p.760
. . | 16 . . . . g.16622
GGCAGCTGCCTGCAGCTCGAGCCAG | ATCTGACGAATGTGATGGCCACGTCCCGGAAATAT c.2340
G S C L Q L E P D | L T N V M A T S R K Y p.780
. . . . . . g.16682
GAAGACCTGTTATGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCATCCTCCAG c.2400
E D L L W A W E G W R D K A G R A I L Q p.800
. . . . | 17 . g.16891
TTTTACCCGAAATACGTGGAACTCATCAACCAGGCTGCCCGGCTCAATG | GCTATGTAGAT c.2460
F Y P K Y V E L I N Q A A R L N G | Y V D p.820
. . . . . . g.16951
GCAGGGGACTCGTGGAGGTCTATGTACGAGACACCATCCCTGGAGCAAGACCTGGAGCGG c.2520
A G D S W R S M Y E T P S L E Q D L E R p.840
. . . . . . g.17011
CTCTTCCAGGAGCTGCAGCCACTCTACCTCAACCTGCATGCCTACGTGCGCCGGGCCCTG c.2580
L F Q E L Q P L Y L N L H A Y V R R A L p.860
. . . . . . g.17071
CACCGTCACTACGGGGCCCAGCACATCAACCTGGAGGGGCCCATTCCTGCTCACCTGCTG c.2640
H R H Y G A Q H I N L E G P I P A H L L p.880
| 18 . . . . . . g.18952
G | GGAACATGTGGGCGCAGACCTGGTCCAACATCTATGACTTGGTGGTGCCCTTCCCTTCA c.2700
G | N M W A Q T W S N I Y D L V V P F P S p.900
. . . | 19 . . g.19169
GCCCCCTCGATGGACACCACAGAGGCTATGCTAAAGCAG | GGCTGGACGCCCAGGAGGATG c.2760
A P S M D T T E A M L K Q | G W T P R R M p.920
. . . . . . g.19229
TTTAAGGAGGCTGATGATTTCTTCACCTCCCTGGGGCTGCTGCCCGTGCCTCCTGAGTTC c.2820
F K E A D D F F T S L G L L P V P P E F p.940
. . . . . . g.19289
TGGAACAAGTCGATGCTGGAGAAGCCAACCGACGGGCGGGAGGTGGTCTGCCACGCCTCG c.2880
W N K S M L E K P T D G R E V V C H A S p.960
. . . | 20 . . . g.21403
GCCTGGGACTTCTACAACGGCAAGGACTTCCG | GATCAAGCAGTGCACCACCGTGAACTTG c.2940
A W D F Y N G K D F R | I K Q C T T V N L p.980
. . . . . . g.21463
GAGGACCTGGTGGTGGCCCACCACGAAATGGGCCACATCCAGTATTTCATGCAGTACAAA c.3000
E D L V V A H H E M G H I Q Y F M Q Y K p.1000
. . . . . . g.21523
GACTTACCTGTGGCCTTGAGGGAGGGTGCCAACCCCGGCTTCCATGAGGCCATTGGGGAC c.3060
D L P V A L R E G A N P G F H E A I G D p.1020
. . . . . . g.21583
GTGCTAGCCCTCTCAGTGTCTACGCCCAAGCACCTGCACAGTCTCAACCTGCTGAGCAGT c.3120
V L A L S V S T P K H L H S L N L L S S p.1040
. | 21 . . . . . g.21905
GAGGGTGGCAGCGACG | AGCATGACATCAACTTTCTGATGAAGATGGCCCTTGACAAGATC c.3180
E G G S D E | H D I N F L M K M A L D K I p.1060
. . . . . . g.21965
GCCTTTATCCCCTTCAGCTACCTCGTCGATCAGTGGCGCTGGAGGGTATTTGATGGAAGC c.3240
A F I P F S Y L V D Q W R W R V F D G S p.1080
. . . . | 22 . . g.22330
ATCACCAAGGAGAACTATAACCAGGAGTGGTGGAGCCTCAG | GCTGAAGTACCAGGGCCTC c.3300
I T K E N Y N Q E W W S L R | L K Y Q G L p.1100
. . . . . . g.22390
TGCCCCCCAGTGCCCAGGACTCAAGGTGACTTTGACCCAGGGGCCAAGTTCCACATTCCT c.3360
C P P V P R T Q G D F D P G A K F H I P p.1120
. . | 23 . . . . g.24373
TCTAGCGTGCCTTACATCAG | GTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAG c.3420
S S V P Y I R | Y F V S F I I Q F Q F H E p.1140
. . . . . . g.24433
GCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCC c.3480
A L C Q A A G H T G P L H K C D I Y Q S p.1160
. . | 24 . . . . g.24774
AAGGAGGCCGGGCAGCGCCTGGC | GACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCG c.3540
K E A G Q R L A | T A M K L G F S R P W P p.1180
. . . . . . g.24834
GAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTAC c.3600
E A M Q L I T G Q P N M S A S A M L S Y p.1200
. . . . . . g.24894
TTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGC c.3660
F K P L L D W L R T E N E L H G E K L G p.1220
. . . | 25 . . . g.25105
TGGCCGCAGTACAACTGGACGCCGAACTCCG | CTCGCTCAGAAGGGCCCCTCCCAGACAGC c.3720
W P Q Y N W T P N S A | R S E G P L P D S p.1240
. . . . . . g.25165
GGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGG c.3780
G R V S F L G L D L D A Q Q A R V G Q W p.1260
. . . . . . g.25225
CTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTC c.3840
L L L F L G I A L L V A T L G L S Q R L p.1280
. . . . . . g.25285
TTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAG c.3900
F S I R H R S L H R H S H G P Q F G S E p.1300
. . g.25306
GTGGAGCTGAGACACTCCTGA c.3921
V E L R H S X p.1306
. . . . . . g.25366
ggtgacccggctgggtcggccctgcccaagggcctcccaccagagactgggatgggaaca c.*60
. . . . . . g.25426
ctggtgggcagctgaggacacaccccacaccccagcccaccctgctcctcctgccctgtc c.*120
. . . . . . g.25486
cctgtccccctcccctcccagtcctccagaccaccagccgccccagccccttctcccagc c.*180
. . . . . . g.25546
acacggctgcctgacactgagccccacctctccaagtctctctgtgaatacaattaaagg c.*240
. . . . . . g.25606
tcctgccctccccatctgagtctgtgtccctcacagggaagccagggacagggacaggct c.*300
. . . . . . g.25666
gctttcctgcctcctggcagtcaagtgggtcccgttactaggtttgttcctccatcctcc c.*360
. . . . . . g.25726
ttcaggagccggggaggatccccagagctctgccccagcacctcctggcgctggcgcctg c.*420
. . . . . . g.25786
tcttccctccagcccaggcagcccgccactgtcctgccaccgcaggcagcccctgtctgg c.*480
. . . . . . g.25846
cccaagcactgacccacgcggactctgggaagcagacatcctgggctgctggcctcacat c.*540
. . . . . . g.25906
ttccactggcagtggagcctttccctgctccacaaatggccaggtccccccaggggaagg c.*600
. . . . . . g.25966
cttccggctgttatcggctgcctcagggggcgagtaccttggagggcctgcttcaaggag c.*660
. . . . . . g.26026
ggtgccccctggagggcacacaccagcctagtgcttaccttggctcctgcctgtaccagc c.*720
. . . . . . g.26086
tccatgactctgctcgggtgaacagccttggctctcagacagccattctaacactgccag c.*780
. . . . . . g.26146
tgcagaggggcctcagacgctggagtgtagcagtggctgcacctgcacagggattagctg c.*840
. . . . . . g.26206
ccagcagccaccctgctggcgtcccagcacacacctcctcactccctgcattggagggag c.*900
. . . . . . g.26266
tgtcattttaagggacatttttatgacttttatgtgtatgtttatgtagaaatttggaaa c.*960
. . . . . g.26320
atacagaaaactgtaaagaaaataaaagccctttatatcaacgtcaagagataa c.*1014
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 08
©2004-2013 Leiden University Medical Center