(used for variant description)
(last modified July 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001122633.2 in the CPS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008285.1, covering CPS1 transcript NM_001122633.2.
(upstream sequence)
. . g.5022
gctcttttaaaatagttgcttt c.-61
. . . . . . g.5082
cttaggaaatgtagttgctttcttaacctcatcaaattcatgaagatttagccgaggccc c.-1
| 02 . . . . . . g.84094
ATG | CCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTG c.60
M | P Q I I K M T R I L T A F K V V R T L p.20
. . . . . . g.84154
AAGACTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCT c.120
K T G F G F T N V T A H Q K W K F S R P p.40
. . | 03 . . . . g.100652
GGCATCAGGCTCCTTTCTGTCAAG | GCACAGACAGCACACATTGTCCTGGAAGATGGAACT c.180
G I R L L S V K | A Q T A H I V L E D G T p.60
. . . . . . g.100712
AAGATGAAAGGTTACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAAT c.240
K M K G Y S F G H P S S V A G E V V F N p.80
. | 04 . . . . . g.103710
ACTGGCCTGGGAGG | GTACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTC c.300
T G L G G | Y P E A I T D P A Y K G Q I L p.100
. . . . . . g.103770
ACAATGGCCAACCCTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAA c.360
T M A N P I I G N G G A P D T T A L D E p.120
. . . | 05 . . g.104760
CTGGGACTTAGCAAATATTTGGAGTCTAATGGAATCAAG | GTTTCAGGTTTGCTGGTGCTG c.420
L G L S K Y L E S N G I K | V S G L L V L p.140
. . . . . . g.104820
GATTATAGTAAAGACTACAACCACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAG c.480
D Y S K D Y N H W L A T K S L G Q W L Q p.160
| 06 . . . . . g.107083
GAAGAAAAG | GTTCCTGCAATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGG c.540
E E K | V P A I Y G V D T R M L T K I I R p.180
| 07 . . . . . . g.109989
GATAAG | GGTACCATGCTTGGGAAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGAT c.600
D K | G T M L G K I E F E G Q P V D F V D p.200
. . . | 08 . . g.115397
CCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAG | GATGTCAAAGTGTACGGCAAA c.660
P N K Q N L I A E V S T K | D V K V Y G K p.220
. . . . . . g.115457
GGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTG c.720
G N P T K V V A V D C G I K N N V I R L p.240
| 09 . . . . . g.117475
CTAGTAAAG | CGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATG c.780
L V K | R G A E V H L V P W N H D F T K M p.260
. . . . . . g.117535
GAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAACCACTA c.840
E Y D G I L I A G G P G N P A L A E P L p.280
. | 10 . . . . g.118160
ATTCAGAATGTCAGAAAG | ATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGT c.900
I Q N V R K | I L E S D R K E P L F G I S p.300
. . . . . . g.118220
ACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCC c.960
T G N L I T G L A A G A K T Y K M S M A p.320
| 11 . . . . . . g.119204
AACAG | AGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCT c.1020
N R | G Q N Q P V L N I T N K Q A F I T A p.340
. . . . . . g.119264
CAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTG c.1080
Q N H G Y A L D N T L P A G W K P L F V p.360
. . | 12 . . . . g.120233
AATGTCAACGATCAAACAAATGAG | GGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTG c.1140
N V N D Q T N E | G I M H E S K P F F A V p.380
. . . . | 13 . . g.121844
CAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAG | TACCTGTTTGATTCCTTT c.1200
Q F H P E V T P G P I D T E | Y L F D S F p.400
. . . . . . g.121904
TTCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCA c.1260
F S L I K K G K A T T I T S V L P K P A p.420
. . | 14 . . . . g.122844
CTAGTTGCATCTCGGGTTGAG | GTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCC c.1320
L V A S R V E | V S K V L I L G S G G L S p.440
. . . . . | 15. g.126693
ATTGGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAG | GAA c.1380
I G Q A G E F D Y S G S Q A V K A M K | E p.460
. . . . . . g.126753
GAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTG c.1440
E N V K T V L M N P N I A S V Q T N E V p.480
. . . . . . g.126813
GGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAG c.1500
G L K Q A D T V Y F L P I T P Q F V T E p.500
. . . . . . g.126873
GTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTG c.1560
V I K A E Q P D G L I L G M G G Q T A L p.520
| 16. . . . . . g.127926
AACTGTG | GAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTG c.1620
N C G | V E L F K R G V L K E Y G V K V L p.540
. . . . . . g.127986
GGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTA c.1680
G T S V E S I M A T E D R Q L F S D K L p.560
. . . . | 17 . . g.129535
AATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCG | ATTGAGGATGCACTG c.1740
N E I N E K I A P S F A V E S | I E D A L p.580
. . . . . . g.129595
AAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGG c.1800
K A A D T I G Y P V M I R S A Y A L G G p.600
. . . . . | 18 . g.132426
TTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAG | GCCTTT c.1860
L G S G I C P N R E T L M D L S T K | A F p.620
. . . . . . g.132486
GCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATAT c.1920
A M T N Q I L V E K S V T G W K E I E Y p.640
. . . . . . g.132546
GAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGAT c.1980
E V V R D A D D N C V T V C N M E N V D p.660
. | 19 . . . . g.134090
GCCATGGGTGTTCACACAG | GTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAAT c.2040
A M G V H T G | D S V V V A P A Q T L S N p.680
. . . . . . g.134150
GCCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTG c.2100
A E F Q M L R R T S I N V V R H L G I V p.700
. . . . . . g.134210
GGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAA c.2160
G E C N I Q F A L H P T S M E Y C I I E p.720
. . . . . | 20 . g.135689
GTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGG | CTACCCATTG c.2220
V N A R L S R S S A L A S K A T G | Y P L p.740
. . . . . . g.135749
GCATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTA c.2280
A F I A A K I A L G I P L P E I K N V V p.760
. . . . . . g.135809
TCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCC c.2340
S G K T S A C F E P S L D Y M V T K I P p.780
. . . . . . g.135869
CGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGT c.2400
R W D L D R F H G T S S R I G S S M K S p.800
| 21 . . . . . g.139486
GTAGGAGAG | GTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGG c.2460
V G E | V M A I G R T F E E S F Q K A L R p.820
. . . . . . g.139546
ATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCA c.2520
M C H P S I E G F T P R L P M N K E W P p.840
. . . . . . g.139606
TCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATT c.2580
S N L D L R K E L S E P S S T R I Y A I p.860
| 22 . . . . . . g.143795
GCCAAG | GCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGAC c.2640
A K | A I D D N M S L D E I E K L T Y I D p.880
. . . . . . g.143855
AAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTC c.2700
K W F L Y K M R D I L N M E K T L K G L p.900
| 23 . . . . . . g.165075
AACAG | TGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGAT c.2760
N S | E S M T E E T L K R A K E I G F S D p.920
. . . . . . g.165135
AAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAG c.2820
K Q I S K C L G L T E A Q T R E L R L K p.940
. . | 24. . . . g.166501
AAAAACATCCACCCTTGGGTTAAACAG | ATTGATACACTGGCTGCAGAATACCCATCAGTA c.2880
K N I H P W V K Q | I D T L A A E Y P S V p.960
. . . | 25 . . . g.167341
ACAAACTATCTCTATGTTACCTACAATGGTCAG | GAGCATGATGTCAATTTTGATGACCAT c.2940
T N Y L Y V T Y N G Q | E H D V N F D D H p.980
. . . | 26. . . g.169825
GGAATGATGGTGCTAGGCTGTGGTCCATATCACATTG | GCAGCAGTGTGGAATTTGATTGG c.3000
G M M V L G C G P Y H I G | S S V E F D W p.1000
. . . . . . g.169885
TGTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAAT c.3060
C A V S S I R T L R Q L G K K T V V V N p.1020
. . . . . . g.169945
TGCAATCCTGAGACTGTGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAG c.3120
C N P E T V S T D F D E C D K L Y F E E p.1040
. . . | 27 . . g.175202
TTGTCCTTGGAGAGAATCCTAGACATCTACCATCAGGAG | GCATGTGGTGGCTGCATCATA c.3180
L S L E R I L D I Y H Q E | A C G G C I I p.1060
. . . . . . g.175262
TCAGTTGGAGGCCAGATTCCAAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAG c.3240
S V G G Q I P N N L A V P L Y K N G V K p.1080
. . . . . . g.175322
ATCATGGGCACAAGCCCCCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCT c.3300
I M G T S P L Q I D R A E D R S I F S A p.1100
. . . . . | 28 . g.175797
GTCTTGGATGAGCTGAAGGTGGCTCAGGCACCTTGGAAAGCTGTTAATACTTTG | AATGAA c.3360
V L D E L K V A Q A P W K A V N T L | N E p.1120
. . . . . . g.175857
GCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTG c.3420
A L E F A K S V D Y P C L L R P S Y V L p.1140
| 29 . . . . . . g.177739
AG | TGGGTCTGCTATGAATGTGGTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAG c.3480
S | G S A M N V V F S E D E M K K F L E E p.1160
. | 30 . . . . g.181385
GCGACTAGAGTTTCTCAG | GAGCACCCAGTGGTGCTGACAAAATTTGTTGAAGGGGCCCGA c.3540
A T R V S Q | E H P V V L T K F V E G A R p.1180
. . . | 31 . . . g.183867
GAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGG | GTTATCTCTCATGCCATCTCTGAA c.3600
E V E M D A V G K D G R | V I S H A I S E p.1200
. . . . . . g.183927
CATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACC c.3660
H V E D A G V H S G D A T L M L P T Q T p.1220
. . | 32 . . . . g.185953
ATCAGCCAAGGGGCCATTGAAAAG | GTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTT c.3720
I S Q G A I E K | V K D A T R K I A K A F p.1240
. . . . . | 33 . g.187809
GCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTG | GTGATT c.3780
A I S G P F N V Q F L V K G N D V L | V I p.1260
. . . . . . g.187869
GAGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGAC c.3840
E C N L R A S R S F P F V S K T L G V D p.1280
. . . . . . g.187929
TTCATTGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCA c.3900
F I D V A T K V M I G E N V D E K H L P p.1300
. . . . | 34 . . g.190456
ACATTGGACCATCCCATAATTCCTGCTGACTATGTTGCAATTAAG | GCTCCCATGTTTTCC c.3960
T L D H P I I P A D Y V A I K | A P M F S p.1320
. . . . . . g.190516
TGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAG c.4020
W P R L R D A D P I L R C E M A S T G E p.1340
| 35 . . . . . . g.195564
| GTGGCTTGCTTTGGTGAAGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGA c.4080
| V A C F G E G I H T A F L K A M L S T G p.1360
. . . | 36 . . g.202241
TTTAAGATACCCCAGAAAGGCATCCTGATAGGCATCCAG | CAATCATTCCGGCCAAGATTC c.4140
F K I P Q K G I L I G I Q | Q S F R P R F p.1380
. . . | 37 . . g.203067
CTTGGTGTGGCTGAACAATTACACAATGAAGGTTTCAAG | CTGTTTGCCACGGAAGCCACA c.4200
L G V A E Q L H N E G F K | L F A T E A T p.1400
. . . . . . g.203127
TCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAA c.4260
S D W L N A N N V P A T P V A W P S Q E p.1420
. . . | 38 . . . g.204353
GGACAGAATCCCAGCCTCTCTTCCATCAGAAA | ATTGATTAGAGATGGCAGCATTGACCTA c.4320
G Q N P S L S S I R K | L I R D G S I D L p.1440
. . . . . . g.204413
GTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGG c.4380
V I N L P N N N T K F V H D N Y V I R R p.1460
. . . . | 39 . . g.205223
ACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAG | GTGACCAAACTTTTTGCT c.4440
T A V D S G I P L L T N F Q | V T K L F A p.1480
. . . . . . g.205283
GAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTAC c.4500
E A V Q K S R K V D S K S L F H Y R Q Y p.1500
. . g.205304
AGTGCTGGAAAAGCAGCATAG c.4521
S A G K A A X p.1506
. . . . . . g.205364
agatgcagacaccccagccccattattaaatcaacctgagccacatgttatctaaaggaa c.*60
. . . . . . g.205424
ctgattcacaactttctcagagatgaatattgataactaaacttcatttcagtttacttt c.*120
. . . . . . g.205484
gttatgccttaatattctgtgtcttttgcaattaaattgtcagtcacttcttcaaaacct c.*180
. . . . . . g.205544
tacagtccttcctaagttactcttcatgagatttcatccatttactaatactgtattttt c.*240
. . . . . . g.205604
ggtggactaggcttgcctatgtgcttatgtgtagctttttactttttatggtgctgatta c.*300
. . . . . . g.205664
atggtgatcaaggtaggaaaagttgctgttctattttctgaactctttctatactttaag c.*360
. . . . . . g.205724
atactctatttttaaaacactatctgcaaactcaggacactttaacagggcagaatactc c.*420
. . . . . . g.205784
taaaaacttgataaaattaaatatagatttaatttatgaaccttccatcatgatgtttgt c.*480
. . . . . . g.205844
gtattgcttctttttggatcctcattctcacccatttggctaatccaggaatattgttat c.*540
. . . . . . g.205904
cccttcccattatattgaagttgagaaatgtgacagaggcatttagagtatggacttttc c.*600
. . . . . . g.205964
ttttctttttctttttctttttttctttttgagatggagtcacactctccaggctggagt c.*660
. . . . . . g.206024
gcagtggcacaatctcggctcactgcaatttccgtctcccaagttcaagcgattctcctg c.*720
. . . . . . g.206084
ctttagactatggatttctttaaggaatactggtttgcagttttgttttctggactatat c.*780
. . . . . . g.206144
cagcagatggtagacagtgtttatgtagatgtgttgttgtttttatcattggattttaac c.*840
. . . . . . g.206204
ttggcccgagtgaaataatcagatttttgtcattcacactctcccccagttttggaataa c.*900
. . . . . . g.206264
cttggaagtaaggttcattcccttaagacgatggattctgttgaactatggggtcccaca c.*960
. . . . . . g.206324
ctgcactattaattccacccactgtaagggcaaggacaccattccttctacatataagaa c.*1020
. . . . . . g.206384
aaaagtctctccccaagggcagcctttgttacttttaaatattttctgttattacaagtg c.*1080
. . . . g.206426
ctctaattgtgaacttttaaataaaatactattaagaggtaa c.*1122
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19a
©2004-2017 Leiden University Medical Center