(used for variant description)
(last modified May 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001258428.1 in the SLC4A9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032676.1, covering SLC4A9 transcript NM_001258428.1.
(upstream sequence)
. . . g.5035
ggactgtactggttctgagattctgtgcaagcctc c.-1
. . . . . . g.5095
ATGGAAATGAAGCTGCCAGGCCAGGAAGGGTTTGAAGCCTCCAGTGCTCCTAGAAATATT c.60
M E M K L P G Q E G F E A S S A P R N I p.20
. . . . . . g.5155
CCTTCAGGGGAGCTGGACAGCAACCCTGACCCTGGCACCGGCCCCAGCCCTGATGGCCCC c.120
P S G E L D S N P D P G T G P S P D G P p.40
. . . . . . g.5215
TCAGACACAGAGAGCAAGGAACTGGGAGTACCCAAAGACCCTCTGCTCTTCATTCAGCTG c.180
S D T E S K E L G V P K D P L L F I Q L p.60
. . . . . | 02 . g.5548
AATGAGCTGCTGGGCTGGCCCCAGGCGCTGGAGTGGAGAGAGACAGGCAG | CTCCTCTGCA c.240
N E L L G W P Q A L E W R E T G S | S S A p.80
. . . . . . g.5608
TCTCTGCTCCTGGACATGGGAGAAATGCCCTCAATAACACTGTCTACCCACCTTCATCAC c.300
S L L L D M G E M P S I T L S T H L H H p.100
. . . . . . g.5668
AGGTGGGTACTGTTTGAGGAGAAGTTGGAGGTGGCTGCAGGCCGGTGGAGTGCCCCCCAC c.360
R W V L F E E K L E V A A G R W S A P H p.120
. . . . . . g.5728
GTGCCCACCCTGGCACTGCCCAGCCTCCAGAAGCTCCGCAGCCTGCTGGCCGAGGGCCTT c.420
V P T L A L P S L Q K L R S L L A E G L p.140
. . . . | 03 . . g.6069
GTACTGCTGGACTGCCCAGCTCAGAGCCTCCTGGAGCTCGTGG | AGCAGGTGACCAGGGTG c.480
V L L D C P A Q S L L E L V E | Q V T R V p.160
. . . . . . g.6129
GAGTCGCTGAGCCCAGAGCTGAGAGGGCAGTTGCAGGCCTTGCTGCTGCAGAGACCCCAG c.540
E S L S P E L R G Q L Q A L L L Q R P Q p.180
. . . | 04. . . g.6629
CATTACAACCAGACCACAGGCACCAGGCCCTGCTGGG | GCTCTACTCATCCAAGAAAGGCT c.600
H Y N Q T T G T R P C W G | S T H P R K A p.200
. . . | 05 . . . g.6842
TCTGACAATGAGGAAGCCCCCCTGAGGGAACAG | TGTCAGAACCCCCTGAGACAGAAGCTA c.660
S D N E E A P L R E Q | C Q N P L R Q K L p.220
. . . . . . g.6902
CCTCCAGGAGCTGAGGCAGGGACTGTGCTGGCAGGGGAGCTGGGCTTCCTGGCACAGCCA c.720
P P G A E A G T V L A G E L G F L A Q P p.240
. . . . . . g.6962
CTGGGAGCCTTTGTTCGACTGCGGAACCCTGTGGTACTGGGGTCCCTTACTGAGGTGTCC c.780
L G A F V R L R N P V V L G S L T E V S p.260
. | 06 . . . . . g.7292
CTCCCAAGCAG | GTTTTTCTGCCTTCTCCTGGGCCCCTGTATGCTGGGAAAGGGCTACCAT c.840
L P S R | F F C L L L G P C M L G K G Y H p.280
. . . | 07 . . g.7731
GAGATGGGACGGGCAGCAGCTGTCCTCCTCAGTGACCCG | CAATTCCAGTGGTCAGTTCGT c.900
E M G R A A A V L L S D P | Q F Q W S V R p.300
. . . . . . g.7791
CGGGCCAGCAACCTTCATGACCTTCTGGCAGCCCTGGATGCATTCCTAGAGGAGGTGACA c.960
R A S N L H D L L A A L D A F L E E V T p.320
. . . . . . g.7851
GTGCTTCCCCCAGGTCGGTGGGACCCAACAGCCCGGATTCCCCCGCCCAAATGTCTGCCA c.1020
V L P P G R W D P T A R I P P P K C L P p.340
. | 08 . . . . . g.8283
TCTCAGCACAAAAG | GCTTCCCTCGCAACAGCGGGAGATCAGAGGTCCCGCCGTCCCGCGC c.1080
S Q H K R | L P S Q Q R E I R G P A V P R p.360
. . . . . . g.8343
CTGACCTCGGCTGAGGACAGGCACCGCCATGGGCCACACGCACACAGCCCGGAGTTGCAG c.1140
L T S A E D R H R H G P H A H S P E L Q p.380
. | 09 . . . . . g.8575
CGGACCGGCAG | GCTGTTTGGGGGCCTTATCCAGGACGTGCGCAGGAAGGTCCCGTGGTAC c.1200
R T G R | L F G G L I Q D V R R K V P W Y p.400
. . . . . . g.8635
CCCAGCGATTTCTTGGACGCCCTGCATCTCCAGTGCTTCTCGGCCGTACTCTACATTTAC c.1260
P S D F L D A L H L Q C F S A V L Y I Y p.420
. . . . . . g.8695
CTGGCCACTGTCACTAATGCCATCACTTTTGGGGGTCTGCTGGGAGATGCCACTGATGGT c.1320
L A T V T N A I T F G G L L G D A T D G p.440
| 10 . . . . . . g.8906
GCCCAG | GGAGTGCTGGAAAGTTTCCTGGGCACAGCAGTGGCTGGAGCTGCCTTCTGCCTG c.1380
A Q | G V L E S F L G T A V A G A A F C L p.460
. . . . . . g.8966
ATGGCAGGCCAGCCCCTCACCATTCTGAGCAGCACGGGGCCAGTGCTGGTCTTTGAGCGC c.1440
M A G Q P L T I L S S T G P V L V F E R p.480
. . | 11 . . . . g.9201
CTGCTCTTCTCTTTCAGCAG | AGATTACAGCCTGGACTACCTGCCCTTCCGCCTATGGGTG c.1500
L L F S F S R | D Y S L D Y L P F R L W V p.500
. . . . . . g.9261
GGCATCTGGGTGGCTACCTTTTGCCTGGTGCTGGTGGCCACAGAGGCCAGTGTGCTGGTG c.1560
G I W V A T F C L V L V A T E A S V L V p.520
. . . . . . g.9321
CGCTACTTCACCCGCTTCACTGAGGAAGGTTTCTGTGCCCTCATCAGCCTCATCTTCATC c.1620
R Y F T R F T E E G F C A L I S L I F I p.540
. . . . . . g.9381
TACGATGCTGTGGGCAAAATGCTGAACTTGACCCATACCTATCCTATCCAGAAGCCTGGG c.1680
Y D A V G K M L N L T H T Y P I Q K P G p.560
. . . . | 12 . . g.10335
TCCTCTGCCTACGGGTGCCTCTGCCAATACCCAGGCCCAGGAG | GAAATGAGTCTCAATGG c.1740
S S A Y G C L C Q Y P G P G G | N E S Q W p.580
. . . . | 13 . . g.10650
ATAAGGACAAGGCCAAAAGACAGAGACGACATTGTAAGCATG | GACTTAGGCCTGATCAAT c.1800
I R T R P K D R D D I V S M | D L G L I N p.600
. . . . . . g.10710
GCATCCTTGCTGCCGCCACCTGAGTGCACCCGGCAGGGAGGCCACCCTCGTGGCCCTGGC c.1860
A S L L P P P E C T R Q G G H P R G P G p.620
. . . . . . g.10770
TGTCATACAGTCCCAGACATTGCCTTCTTCTCCCTTCTCCTCTTCCTTACTTCTTTCTTC c.1920
C H T V P D I A F F S L L L F L T S F F p.640
. . . . . | 14 . g.10958
TTTGCTATGGCCCTCAAGTGTGTAAAGACCAGCCGCTTCTTCCCCTCTGTG | GTGCGCAAA c.1980
F A M A L K C V K T S R F F P S V | V R K p.660
. . . . . . g.11018
GGGCTCAGCGACTTCTCCTCAGTCCTGGCCATCCTGCTCGGCTGTGGCCTTGATGCTTTC c.2040
G L S D F S S V L A I L L G C G L D A F p.680
. . . . | 15 . . g.12233
CTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGAGAGTTCAAG | CCCACACTCCCTGGG c.2100
L G L A T P K L M V P R E F K | P T L P G p.700
. . . . . . g.12293
CGTGGCTGGCTGGTGTCACCTTTTGGAGCCAACCCCTGGTGGTGGAGTGTGGCAGCTGCC c.2160
R G W L V S P F G A N P W W W S V A A A p.720
. . . . . . g.12353
CTGCCTGCCCTGCTGCTGTCTATCCTCATCTTCATGGACCAACAGATCACAGCAGTCATC c.2220
L P A L L L S I L I F M D Q Q I T A V I p.740
. . | 16. . . . g.12551
CTCAACCGCATGGAATACAGACTGCAG | AAGGGAGCTGGCTTCCACCTGGACCTCTTCTGT c.2280
L N R M E Y R L Q | K G A G F H L D L F C p.760
. . . . . . g.12611
GTGGCTGTGCTGATGCTACTCACATCAGCGCTTGGACTGCCTTGGTATGTCTCAGCCACT c.2340
V A V L M L L T S A L G L P W Y V S A T p.780
. . . . . . g.12671
GTCATCTCCCTGGCTCACATGGACAGTCTTCGGAGAGAGAGCAGAGCCTGTGCCCCCGGG c.2400
V I S L A H M D S L R R E S R A C A P G p.800
. . | 17 . . . . g.13419
GAGCGCCCCAACTTCCTGGGTATCAG | GGAACAGAGGCTGACAGGCCTGGTGGTGTTCATC c.2460
E R P N F L G I R | E Q R L T G L V V F I p.820
. . . | 18 . . g.15914
CTTACAGGAGCCTCCATCTTCCTGGCACCTGTGCTCAAG | TTCATTCCAATGCCTGTGCTC c.2520
L T G A S I F L A P V L K | F I P M P V L p.840
. . . . | 19 . g.16261
TATGGCATCTTCCTGTATATGGGGGTGGCAGCGCTCAGCAGCATTCAG | TTCACTAATAGG c.2580
Y G I F L Y M G V A A L S S I Q | F T N R p.860
. . . . . . g.16321
GTGAAGCTGTTGTTGATGCCAGCAAAACACCAGCCAGACCTGCTACTCTTGCGGCATGTG c.2640
V K L L L M P A K H Q P D L L L L R H V p.880
. . . . . . g.16381
CCTCTGACCAGGGTCCACCTCTTCACAGCCATCCAGCTTGCCTGTCTGGGGCTGCTTTGG c.2700
P L T R V H L F T A I Q L A C L G L L W p.900
. . . . | 20 . . g.17058
ATAATCAAGTCTACCCCTGCAGCCATCATCTTCCCCCTCATG | TTGCTGGGCCTTGTGGGG c.2760
I I K S T P A A I I F P L M | L L G L V G p.920
. . . . . . g.17118
GTCCGAAAGGCCCTGGAGAGGGTCTTCTCACCACAGGAACTCCTCTGGCTGGATGAGCTG c.2820
V R K A L E R V F S P Q E L L W L D E L p.940
. . . . . . g.17178
ATGCCAGAGGAGGAGAGAAGCATCCCTGAGAAGGGGCTGGAGCCAGAACACTCATTCAGT c.2880
M P E E E R S I P E K G L E P E H S F S p.960
. | 21 . . . . g.17585
GGAAGTGACAGTGAAGAT | TCAGAGCTGATGTATCAGCCAAAGGCTCCAGAAATCAACATT c.2940
G S D S E D | S E L M Y Q P K A P E I N I p.980
. g.17597
TCTGTGAATTAG | c.2953
S V N X p.983
. . . . | 22 . . g.19583
ctggagtaggagtctgggagtggagaccccaggaaacagcatgag | ttcacaggtgcttac c.*60
. . . . . . g.19643
tcaggaagtcaggacatttttggcctttggcttaacttccagatgctcagtcggcttggg c.*120
. . . . . . g.19703
gaaggactgaagggcagctgccaagacctcagttacctcctgacctgagggtggagagtg c.*180
. . . . . . g.19763
gcaggaagcaagcatgtttgctgtgcacttaggaaaggctggtgagccagagggactgat c.*240
. . . . . . g.19823
caggccccattcactctctactcattaaaaggtcctgagccacgaagcgcttcccatttt c.*300
. . . . . . g.19883
gaactttctgtcctcacagattctgtttgacagaatctaagggccatcagggaactcttt c.*360
. . . . . g.19936
tcatcttgcaaagagaaaaagccagtctttccagaataaatattcatctgttt c.*413
(downstream sequence)
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