(used for variant description)
(last modified July 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_207421.3 in the PADI6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032943.2, covering PADI6 transcript NM_207421.3.
(upstream sequence)
. . . . . . g.60
ATGGTCAGCGTGGAGGGCCGAGCCATGTCCTTCCAGAGTATCATCCACCTGTCCCTGGAC c.60
M V S V E G R A M S F Q S I I H L S L D p.20
. . . . . | 02 . g.814
AGCCCTGTCCATGCCGTTTGTGTGTTGGGCACAGAAATCTGCTTGGATCTCAGCGG | GTGT c.120
S P V H A V C V L G T E I C L D L S G | C p.40
. . . . . . g.874
GCCCCCCAGAAGTGCCAGTGCTTCACCATCCATGGCTCTGGGAGGGTCTTGATCGATGTG c.180
A P Q K C Q C F T I H G S G R V L I D V p.60
. . . . . . g.934
GCCAACACGGTGATTTCTGAGAAGGAGGACGCCACCATCTGGTGGCCCCTGTCTGATCCC c.240
A N T V I S E K E D A T I W W P L S D P p.80
. . . . . | 03 . g.3187
ACGTACGCCACAGTGAAGATGACATCGCCCAGCCCTTCCGTGGATGCGGATAAG | GTCTCG c.300
T Y A T V K M T S P S P S V D A D K | V S p.100
. . . . . . g.3247
GTCACATACTATGGGCCCAACGAGGATGCCCCCGTGGGCACAGCTGTGCTGTACCTCACT c.360
V T Y Y G P N E D A P V G T A V L Y L T p.120
| 04. . . . . . g.7727
GGCATTG | AGGTCTCTCTAGAGGTAGACATCTACCGCAATGGGCAAGTTGAGATGTCAAGT c.420
G I E | V S L E V D I Y R N G Q V E M S S p.140
. | 05 . . . . . g.8846
GACAAACAGGCTAAG | AAAAAATGGATCTGGGGTCCCAGCGGTTGGGGTGCCATCCTGCTT c.480
D K Q A K | K K W I W G P S G W G A I L L p.160
. . . . . . g.8906
GTGAATTGCAACCCTGCTGATGTGGGCCAGCAACTTGAGGACAAGAAAACCAAGAAAGTG c.540
V N C N P A D V G Q Q L E D K K T K K V p.180
. | 06 . . . . . g.9768
ATCTTTTCAGAGG | AAATAACGAATCTGTCCCAGATGACTCTGAATGTCCAAGGCCCCAGC c.600
I F S E E | I T N L S Q M T L N V Q G P S p.200
. . . . . . g.9828
TGTATCTTAAAGAAATATCGGCTAGTCCTCCATACCTCCAAGGAAGAGTCGAAGAAGGCG c.660
C I L K K Y R L V L H T S K E E S K K A p.220
. | 07 . . . . g.16176
AGAGTCTACTGGCCCCAAA | AAGACAACTCCAGTACCTTTGAGTTGGTGCTGGGGCCCGAC c.720
R V Y W P Q K | D N S S T F E L V L G P D p.240
. . . . . . g.16236
CAGCACGCCTATACCTTGGCCCTCCTCGGGAACCACTTGAAGGAGACTTTCTACGTTGAA c.780
Q H A Y T L A L L G N H L K E T F Y V E p.260
. . . . . . g.16296
GCTATAGCATTCCCATCTGCCGAATTCTCAGGCCTCATCTCCTACTCTGTGTCCCTGGTG c.840
A I A F P S A E F S G L I S Y S V S L V p.280
. | 08 . . . . g.16573
GAGGAGTCTCAAGACCCG | TCAATTCCAGAGACTGTGCTGTACAAAGACACGGTGGTGTTC c.900
E E S Q D P | S I P E T V L Y K D T V V F p.300
. . . . . . g.16633
CGGGTGGCTCCCTGTGTCTTCATTCCCTGTACCCAGGTGCCTCTGGAGGTTTACCTGTGC c.960
R V A P C V F I P C T Q V P L E V Y L C p.320
| 09 . . . . . . g.19926
AG | GGAGCTGCAGCTGCAGGGTTTTGTGGACACAGTGACGAAGCTGAGTGAGAAGAGCAAC c.1020
R | E L Q L Q G F V D T V T K L S E K S N p.340
. . . . . | 10 . g.21735
AGCCAGGTGGCATCTGTCTATGAGGACCCCAACCGCCTGGGCAGGTGGCTCCAG | GATGAG c.1080
S Q V A S V Y E D P N R L G R W L Q | D E p.360
. . . . . . g.21795
ATGGCCTTCTGCTACACCCAGGCTCCCCACAAGACAACGTCCTTGATCCTCGACACACCT c.1140
M A F C Y T Q A P H K T T S L I L D T P p.380
. . . . | 11 . . g.22072
CAGGCCGCCGATCTCGATGAGTTCCCCATGAAGTACTCACTG | AGCCCTGGTATTGGCTAC c.1200
Q A A D L D E F P M K Y S L | S P G I G Y p.400
. . . . . . g.22132
ATGATCCAGGACACTGAGGACCATAAAGTGGCCAGCATGGATTCCATTGGGAACCTGATG c.1260
M I Q D T E D H K V A S M D S I G N L M p.420
. . . . . . g.22192
GTGTCCCCACCTGTCAAGGTCCAAGGGAAAGAGTACCCGCTGGGCAGAGTCCTCATTGGC c.1320
V S P P V K V Q G K E Y P L G R V L I G p.440
. | 12. . . . . g.22748
AGCAGCTTTTACCCCAG | CGCAGAGGGCCGGGCCATGAGTAAGACCCTCCGAGACTTCCTC c.1380
S S F Y P S | A E G R A M S K T L R D F L p.460
. . . . . . g.22808
TATGCCCAGCAGGTCCAAGCGCCGGTGGAGCTCTACTCAGATTGGCTAATGACTGGCCAC c.1440
Y A Q Q V Q A P V E L Y S D W L M T G H p.480
. . . . . | 13 . g.23300
GTGGATGAGTTCATGTGCTTCATCCCCACAGATGACAAGAATGAGGGCAAAAAG | GGCTTC c.1500
V D E F M C F I P T D D K N E G K K | G F p.500
. . . . . . g.23360
CTGCTGCTCCTGGCCAGCCCCAGTGCCTGCTATAAACTGTTCCGAGAGAAACAGAAGGAA c.1560
L L L L A S P S A C Y K L F R E K Q K E p.520
. . . . . | 14 g.24827
GGCTATGGCGACGCTCTTCTGTTTGATGAGCTTAGAGCAGATCAGCTCCTGTCTAATG | GA c.1620
G Y G D A L L F D E L R A D Q L L S N G | p.540
. . . . . . g.24887
AGGGAAGCCAAAACCATCGACCAACTTCTGGCTGATGAAAGCCTGAAGAAGCAGAATGAA c.1680
R E A K T I D Q L L A D E S L K K Q N E p.560
| 15 . . . . . g.26491
TACGTGGAG | AAGTGCATTCACCTGAACCGTGACATCCTGAAGACGGAGCTGGGCCTGGTG c.1740
Y V E | K C I H L N R D I L K T E L G L V p.580
. . . . . . g.26551
GAACAGGACATCATCGAGATTCCCCAGCTGTTCTGCTTGGAGAAGCTGACTAACATCCCC c.1800
E Q D I I E I P Q L F C L E K L T N I P p.600
. . . . . | 16 . g.28968
TCTGACCAGCAGCCCAAGAGGTCCTTTGCGAGGCCATACTTCCCTGACCTG | TTGCGGATG c.1860
S D Q Q P K R S F A R P Y F P D L | L R M p.620
. . . . . . g.29028
ATTGTGATGGGCAAGAACCTGGGGATCCCCAAGCCTTTTGGGCCCCAAATCAAGGGGACC c.1920
I V M G K N L G I P K P F G P Q I K G T p.640
. . . . . . g.29088
TGCTGCCTGGAAGAAAAGATTTGCTGCTTGCTGGAGCCCCTGGGCTTCAAGTGCACCTTC c.1980
C C L E E K I C C L L E P L G F K C T F p.660
. . . . . . g.29148
ATCAATGACTTTGACTGTTACCTGACAGAGGTCGGAGACATCTGTGCCTGTGCCAACATC c.2040
I N D F D C Y L T E V G D I C A C A N I p.680
. . . . g.29193
CGCCGGGTGCCCTTTGCCTTCAAATGGTGGAAGATGGTACCTTAG c.2085
R R V P F A F K W W K M V P X p.694
. . . . . . g.29253
acccaggccctggagctgccagctctgccccagcgtggatggcccactgtcaccatgcaa c.*60
. . . . . . g.29313
cagcatgattctttgcccagtagaggaggctggagagtccaggcaacagaaccctttctt c.*120
. . . . . . g.29373
ccctgtctgccccgaccgaccctcggacccagtaggatggcaaatgccgccagcttgaac c.*180
. . . . . . g.29433
ccctatggggaaaagatgcaaaagtgttcagccaagtgacgtttactaaatagccaataa c.*240
. . g.29454
agggctggtgggtgtgaatgc c.*261
(downstream sequence)
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