(used for variant description)
(last modified February 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_012447.2 in the STAG3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering STAG3 transcript NM_012447.2.
(upstream sequence)
. . . g.5035
cgcgcttttctggaatctttcgcccccggaagggc c.-121
. . . . . . | 02 g.7582
agcggcgggcgcctgtgtggaaggtggggtggccagagacacccgagggacctgag | ctgg c.-61
. . . . . . g.7642
atcgccatacctaccctgtggtcctcatcttcctggcctcatagctcctcctctccaagc c.-1
. . . . . . g.7702
ATGTCTTCCCCGTTGCAAAGAGCTGTGGGAGATACCAAGAGGGCCTTGTCTGCATCTTCT c.60
M S S P L Q R A V G D T K R A L S A S S p.20
. . . . . | 03 . g.9179
AGTTCCTCTGCCAGTCTACCCTTTGATGACAGGGACTCAAACCATACCTCAGAGGG | GAAT c.120
S S S A S L P F D D R D S N H T S E G | N p.40
. . . . . . g.9239
GGCGACTCTTTGTTAGCTGATGAAGACACTGACTTTGAAGACAGCTTGAATCGCAATGTG c.180
G D S L L A D E D T D F E D S L N R N V p.60
. . . | 04 . . g.9829
AAGAAGAGAGCAGCAAAACGACCACCGAAAACAACACCG | GTGGCAAAACATCCAAAGAAA c.240
K K R A A K R P P K T T P | V A K H P K K p.80
. . . . . . g.9889
GGGTCCCGAGTGGTACATCGTCATAGCCGGAAACAGTCAGAGCCACCAGCCAATGATCTT c.300
G S R V V H R H S R K Q S E P P A N D L p.100
. . . | 05 . . . g.13309
TTCAATGCTGTGAAAGCCGCCAAAAGTGACATGCAG | TCTTTGGTAGATGAGTGGCTGGAT c.360
F N A V K A A K S D M Q | S L V D E W L D p.120
. . . . . . g.13369
AGCTACAAGCAAGACCAGGATGCAGGATTTCTGGAGCTTGTTAACTTTTTCATCCAATCT c.420
S Y K Q D Q D A G F L E L V N F F I Q S p.140
. | 06 . . . . . g.15585
TGCGGATGTAAAG | GCATTGTGACCCCTGAGATGTTCAAGAAGATGTCCAACTCAGAGATC c.480
C G C K G | I V T P E M F K K M S N S E I p.160
. . . | 07 . . . g.15927
ATCCAGCACCTAACAGAGCAGTTTAATGAG | GACTCGGGGGACTACCCTCTCATAGCTCCA c.540
I Q H L T E Q F N E | D S G D Y P L I A P p.180
. . . . . . g.15987
GGTCCATCCTGGAAGAAGTTCCAGGGCAGCTTCTGTGAATTTGTGAGGACATTGGTCTGT c.600
G P S W K K F Q G S F C E F V R T L V C p.200
. . . . . . g.16047
CAGTGCCAGTACAGCCTCCTCTATGATGGCTTCCCTATGGACGACCTCATCTCCCTGCTC c.660
Q C Q Y S L L Y D G F P M D D L I S L L p.220
. . . . . | 08 . g.16535
ACTGGCCTCTCAGACTCACAAGTCCGCGCCTTCCGTCACACTAGCACCCTGGCTG | CTATG c.720
T G L S D S Q V R A F R H T S T L A A | M p.240
. . . . . . g.16595
AAACTGATGACCTCCCTGGTAAAAGTTGCCCTCCAACTGAGTGTGCACCAAGATAACAAT c.780
K L M T S L V K V A L Q L S V H Q D N N p.260
. . . . . . g.16655
CAGCGTCAGTATGAGGCTGAAAGAAACAAGGGGCCAGGGCAGAGGGCACCTGAGCGGCTG c.840
Q R Q Y E A E R N K G P G Q R A P E R L p.280
. . | 09. . . . g.22427
GAGAGCCTGTTGGAGAAACGCAAAGAG | CTCCAAGAGCATCAAGAGGAGATTGAGGGGATG c.900
E S L L E K R K E | L Q E H Q E E I E G M p.300
. . . . | 10 . . g.24260
ATGAATGCCCTCTTCAGGGGTGTCTTTGTTCATCGGTACAG | GGATGTCCTTCCTGAGATC c.960
M N A L F R G V F V H R Y R | D V L P E I p.320
. . . . . . g.24320
CGTGCTATCTGCATTGAGGAAATTGGGTGTTGGATGCAAAGCTACAGCACGTCTTTCCTC c.1020
R A I C I E E I G C W M Q S Y S T S F L p.340
. . . . | 11 . . g.24878
ACCGACAGCTATTTAAAATATATTGGTTGGACTCTGCATGATAAG | CACCGAGAAGTCCGC c.1080
T D S Y L K Y I G W T L H D K | H R E V R p.360
. . . . . . g.24938
CTGAAGTGTGTGAAGGCCCTGAAAGGGCTGTACGGTAACCGGGACCTGACCACACGCCTG c.1140
L K C V K A L K G L Y G N R D L T T R L p.380
. . | 12 . . . . g.25208
GAGCTCTTCACCAGCCGCTTCAAG | GACCGGATGGTTTCCATGGTCATGGACAGAGAGTAT c.1200
E L F T S R F K | D R M V S M V M D R E Y p.400
. . . . | 13 . . g.25576
GATGTGGCAGTGGAGGCTGTCAGATTACTGATACTTATCCTTAA | GAACATGGAAGGGGTG c.1260
D V A V E A V R L L I L I L K | N M E G V p.420
. . . . . . g.25636
CTGACGGACGCGGATTGTGAGAGCGTCTACCCAGTTGTGTATGCCTCTCATCGAGGCCTG c.1320
L T D A D C E S V Y P V V Y A S H R G L p.440
. . . | 14 . . . g.25956
GCCTCTGCCGCAGGCGAATTTCTGTACTGGAA | ACTCTTCTACCCTGAGTGCGAGATAAGA c.1380
A S A A G E F L Y W K | L F Y P E C E I R p.460
. . . . . . g.26016
ATGATGGGTGGAAGAGAGCAACGCCAGAGCCCAGGCGCCCAGAGGACTTTCTTCCAGCTT c.1440
M M G G R E Q R Q S P G A Q R T F F Q L p.480
. . | 15. . . . g.26380
CTGCTGTCCTTCTTTGTGGAGAGCGAG | CTCCATGACCACGCTGCTTACTTAGTAGACAGT c.1500
L L S F F V E S E | L H D H A A Y L V D S p.500
. . . . . . g.26440
CTGTGGGACTGTGCAGGGGCTCGGCTGAAGGACTGGGAGGGTCTGACAAGCCTGCTGCTG c.1560
L W D C A G A R L K D W E G L T S L L L p.520
. | 16 . . . . . g.26673
GAGAAGGACCAGA | ACCTGGGTGATGTGCAGGAGAGCACACTGATAGAAATCCTTGTGTCC c.1620
E K D Q N | L G D V Q E S T L I E I L V S p.540
. . . . . | 17. g.27324
AGTGCCCGGCAAGCTTCAGAGGGGCACCCGCCTGTGGGCCGGGTCACTGGGAGGAAG | GGC c.1680
S A R Q A S E G H P P V G R V T G R K | G p.560
. . . . . . g.27384
TTAACCTCTAAGGAGCGCAAGACCCAAGCCGATGACAGGGTGAAGTTGACTGAGCACCTC c.1740
L T S K E R K T Q A D D R V K L T E H L p.580
. . . | 18 . . . g.27568
ATCCCCCTGCTGCCCCAGCTCCTGGCCAAG | TTCTCAGCTGATGCAGAGAAGGTCACTCCC c.1800
I P L L P Q L L A K | F S A D A E K V T P p.600
. . . . . . g.27628
CTGCTCCAGCTTCTCAGCTGCTTTGACCTCCACATCTACTGCACTGGGCGCTTGGAGAAG c.1860
L L Q L L S C F D L H I Y C T G R L E K p.620
| 19 . . . . . . g.27914
| CACCTGGAGCTGTTCCTGCAGCAACTCCAGGAGGTGGTGGTGAAGCATGCAGAGCCAGCG c.1920
| H L E L F L Q Q L Q E V V V K H A E P A p.640
. . . . . . g.27974
GTGCTTGAGGCTGGGGCGCATGCCCTCTACCTGCTCTGTAATCCCGAATTCACTTTCTTC c.1980
V L E A G A H A L Y L L C N P E F T F F p.660
. . . . . . g.28034
AGCCGGGCGGACTTTGCCCGCAGCCAGCTAGTAGATTTGCTGACTGACCGCTTCCAGCAG c.2040
S R A D F A R S Q L V D L L T D R F Q Q p.680
. . | 20 . . . . g.28214
GAGCTTGAAGAGCTGTTACAG | TCGTCCTTCCTAGATGAGGATGAGGTATATAATCTGGCA c.2100
E L E E L L Q | S S F L D E D E V Y N L A p.700
. . . | 21 . . . g.28377
GCCACTCTGAAACGCCTCTCTGCCTTCTACAA | CACTCATGACCTGACTCGCTGGGAGCTC c.2160
A T L K R L S A F Y N | T H D L T R W E L p.720
. . . . . . g.28437
TATGAGCCATGTTGCCAACTCCTGCAGAAGGCTGTGGACACAGGAGAGGTTCCTCACCAG c.2220
Y E P C C Q L L Q K A V D T G E V P H Q p.740
| 22 . . . . . . g.28931
| GTTATCCTGCCAGCCTTGACTCTTGTCTATTTTTCCATTCTCTGGACACTAACCCACATT c.2280
| V I L P A L T L V Y F S I L W T L T H I p.760
. . | 23 . . . . g.29073
TCTAAATCAGATGCTTCCCAG | AAGCAGCTGTCGAGTTTGAGGGACAGAATGGTGGCCTTC c.2340
S K S D A S Q | K Q L S S L R D R M V A F p.780
. . . . . | 24 . g.29263
TGTGAACTCTGCCAGAGTTGCCTCTCAGATGTGGATACTGAGATCCAGGAGCAG | GCTTTT c.2400
C E L C Q S C L S D V D T E I Q E Q | A F p.800
. . . . . . g.29323
GTCTTATTAAGTGATCTACTTCTCATCTTTAGCCCTCAGATGATTGTTGGGGGCCGTGAT c.2460
V L L S D L L L I F S P Q M I V G G R D p.820
. . . . . . g.29383
TTCCTTAGGCCACTTGTCTTTTTTCCTGAAGCTACTCTCCAGTCTGAGCTAGCCAGCTTC c.2520
F L R P L V F F P E A T L Q S E L A S F p.840
. . . . | 25 . . g.29556
CTCATGGACCACGTCTTCATCCAGCCGGGAGACCTGGGCAGTG | GTGATTCCCAGGAGGAT c.2580
L M D H V F I Q P G D L G S G | D S Q E D p.860
. . . . . . g.29616
CATTTACAGATAGAGCGGCTACACCAGCGGCGCCGCCTCCTAGCCGGGTTCTGCAAGCTG c.2640
H L Q I E R L H Q R R R L L A G F C K L p.880
. . . . . . g.29676
TTGCTTTATGGGGTGCTGGAGATGGATGCAGCCTCAGATGTTTTCAAACACTACAACAAG c.2700
L L Y G V L E M D A A S D V F K H Y N K p.900
| 26 . . . . . . g.31166
| TTCTACAATGACTATGGTGACATTATCAAGGAAACATTAACTAGAGCAAGGCAGATTGAC c.2760
| F Y N D Y G D I I K E T L T R A R Q I D p.920
. . . . | 27 . . g.31730
CGAAGTCATTGTTCCCGAATCCTGCTGCTGAGCCTCAAGCAG | CTGTACACAGAACTGCTG c.2820
R S H C S R I L L L S L K Q | L Y T E L L p.940
. . . . . . g.31790
CAGGAGCATGGGCCCCAGGGCCTGAATGAGCTTCCTGCCTTCATCGAGATGAGGGACCTG c.2880
Q E H G P Q G L N E L P A F I E M R D L p.960
. . . . . . g.31850
GCCCGGAGGTTTGCCTTGAGTTTTGGACCCCAGCAGCTGCAGAACCGTGACCTCGTGGTC c.2940
A R R F A L S F G P Q Q L Q N R D L V V p.980
. | 28 . . . . . g.32139
ATGCTACACAA | GGAAGGCATCCAGTTCTCCTTGTCTGAGCTTCCTCCAGCTGGCTCCTCC c.3000
M L H K | E G I Q F S L S E L P P A G S S p.1000
. . . . . . g.32199
AATCAGCCTCCAAATCTGGCATTCCTGGAGCTCCTTTCAGAGTTTTCCCCCCGACTCTTC c.3060
N Q P P N L A F L E L L S E F S P R L F p.1020
. . | 29 . . . . g.32352
CATCAGGACAAGCAGCTTTT | ACTGTCCTATCTAGAAAAGTGCCTGCAGCATGTCTCCCAG c.3120
H Q D K Q L L | L S Y L E K C L Q H V S Q p.1040
. . . . . . g.32412
GCACCTGGCCATCCCTGGGGCCCAGTCACCACCTACTGCCACTCCCTCAGCCCTGTGGAG c.3180
A P G H P W G P V T T Y C H S L S P V E p.1060
. . . . . | 30 g.38098
AACACAGCAGAGACCAGCCCTCAGGTCCTCCCCAGCTCCAAGAGGAGGCGCGTTGAAG | GG c.3240
N T A E T S P Q V L P S S K R R R V E G | p.1080
. . . . . . g.38158
CCTGCCAAGCCTAACAGAGAGGACGTCTCCTCGTCCCAGGAAGAAAGTCTGCAGCTGAAC c.3300
P A K P N R E D V S S S Q E E S L Q L N p.1100
. . . . . . g.38218
AGCATCCCGCCCACGCCCACCCTCACCTCCACAGCTGTGAAGAGCAGGCAGCCCCTGTGG c.3360
S I P P T P T L T S T A V K S R Q P L W p.1120
. . . . . | 31 . g.38530
GGGTTGAAAGAGATGGAGGAAGAAGATGGCTCAGAGTTGGATTTTGCCCAGGG | TCAGCCC c.3420
G L K E M E E E D G S E L D F A Q G | Q P p.1140
. . . . . . g.38590
GTCGCAGGCACCGAGAGGTCAAGGTTCTTGGGTCCACAATATTTCCAGACTCCACACAAC c.3480
V A G T E R S R F L G P Q Y F Q T P H N p.1160
. . . | 32 . . . g.38905
CCTTCAGGTCCTGGCCTGGGCAACCAGCTGATGCG | ACTCAGCCTTATGGAAGAGGACGAG c.3540
P S G P G L G N Q L M R | L S L M E E D E p.1180
. . . . . | 33. g.40823
GAAGAAGAGTTAGAAATCCAGGATGAGTCAAATGAAGAACGGCAGGATACAGACATG | CAA c.3600
E E E L E I Q D E S N E E R Q D T D M | Q p.1200
. . . . . . g.40883
GCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTG c.3660
A S S Y S S T S E R G L D L L D S T E L p.1220
| 34 g.41143
GATATTGAG | GATTTCTGA c.3678
D I E | D F X p.1225
. . . . . . g.41203
caggactctgggcccctccccagctccactccctacctcaagaatgtgaccatttggaaa c.*60
. . . . . . g.41263
aggcaaagagaaaaggagcaaaatgaagcattcccccaggcttcagccctgggctctgag c.*120
. . . . . . g.41323
gggaaagagttgggcattgtttttctaacctaacctttccctctggggtagagaagccga c.*180
. . . . . . g.41383
gagaccctgtcctccctaatgcactgtggcccagtccccttgcctttttcctgttctgtt c.*240
. . . . . . g.41443
tggagtggagaagggcagcacctctgtgtttaatggaaatagcccatagtctcctggatt c.*300
. . . . . . g.41503
tttggaacatctttctcagcctattttgtgtcctaatgattcgctcaataaacatgtttg c.*360
. g.41515
aatccacacgtt c.*372
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center