(used for variant description)
(last modified June 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_006939.2 in the SOS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051073.1, covering SOS2 transcript NM_006939.2.
(upstream sequence)
. . . g.5038
gcggccgccggcgaggcgaggcggcccgcgccctgcct c.-61
. . . . . . g.5098
gtcaggccaccggcccggcccgcgggctgcccccgatgcggaggcgctgtcgccggggcc c.-1
. . . . . . g.5158
ATGCAGCAGGCGCCGCAGCCTTACGAGTTCTTCAGCGAGGAGAACAGTCCGAAATGGCGG c.60
M Q Q A P Q P Y E F F S E E N S P K W R p.20
. . | 02. . . . g.32005
GGACTGTTGGTCTCGGCCCTGCGGAAG | GTTCAGGAACAAGTGCATCCCACTCTCTCAGCT c.120
G L L V S A L R K | V Q E Q V H P T L S A p.40
. . . . . . g.32065
AATGAAGAGTCTCTCTATTATATTGAAGAGCTGATTTTTCAGCTGCTTAATAAATTATGC c.180
N E E S L Y Y I E E L I F Q L L N K L C p.60
. . . | 03 . . . g.35324
ATGGCCCAGCCAAGGACTGTTCAAGATGTAGAG | GAGCGAGTTCAGAAGACCTTTCCTCAC c.240
M A Q P R T V Q D V E | E R V Q K T F P H p.80
. . . . . . g.35384
CCAATTGATAAATGGGCCATTGCTGATGCACAATCTGCTATAGAAAAACGAAAACGAAGA c.300
P I D K W A I A D A Q S A I E K R K R R p.100
. . . . | 04 . . g.36541
AATCCTCTTTTACTGCCTGTGGACAAAATCCATCCTTCGTTGAAG | GAAGTATTAGGGTAC c.360
N P L L L P V D K I H P S L K | E V L G Y p.120
. . . . . . g.36601
AAAGTGGACTACCATGTATCCCTATATATTGTGGCTGTACTAGAGTATATCTCAGCTGAT c.420
K V D Y H V S L Y I V A V L E Y I S A D p.140
. . . . . . g.36661
ATTTTAAAATTGGCTGGTAATTATGTTTTTAATATCCGGCATTATGAAATATCTCAGCAG c.480
I L K L A G N Y V F N I R H Y E I S Q Q p.160
. . . | 05 . . . g.47711
GACATTAAAGTGTCAATGTGTGCGGATAAG | GTTTTGATGGACATGTTTGATCAGGATGAC c.540
D I K V S M C A D K | V L M D M F D Q D D p.180
. . . . . . g.47771
ATAGGTTTGGTTTCTCTCTGTGAAGATGAACCTAGTTCTTCTGGTGAATTAAACTACTAT c.600
I G L V S L C E D E P S S S G E L N Y Y p.200
. . . . . . g.47831
GATCTTGTCAGAACTGAAATCGCAGAAGAAAGACAGTATCTACGGGAATTAAATATGATC c.660
D L V R T E I A E E R Q Y L R E L N M I p.220
. . . . . | 06 . g.53781
ATAAAAGTGTTTCGAGAAGCCTTTCTTTCTGATAGAAAGCTGTTTAAACCTTCT | GATATC c.720
I K V F R E A F L S D R K L F K P S | D I p.240
. . . . . . g.53841
GAAAAGATTTTTAGTAACATTTCAGATATACATGAATTGACTGTGAAACTTTTAGGTTTG c.780
E K I F S N I S D I H E L T V K L L G L p.260
. . . . . . g.53901
ATTGAAGACACAGTTGAAATGACTGATGAAAGCAGTCCTCATCCCTTAGCTGGCAGCTGT c.840
I E D T V E M T D E S S P H P L A G S C p.280
. | 07 . . . . g.55741
TTTGAAGATTTGGCAGAA | GAGCAAGCATTTGATCCTTATGAAACATTATCACAGGACATT c.900
F E D L A E | E Q A F D P Y E T L S Q D I p.300
. . . . . . g.55801
CTTTCACCAGAGTTTCATGAACATTTCAATAAATTGATGGCCAGACCTGCAGTTGCTCTA c.960
L S P E F H E H F N K L M A R P A V A L p.320
| 08 . . . . . g.61880
CACTTTCAG | TCCATTGCTGATGGTTTTAAAGAGGCAGTTCGTTATGTCCTTCCACGTCTT c.1020
H F Q | S I A D G F K E A V R Y V L P R L p.340
. . . . | 09 . g.74784
ATGCTGGTGCCAGTGTATCACTGTTGGCACTACTTTGAGTTACTAAAG | CAATTGAAAGCA c.1080
M L V P V Y H C W H Y F E L L K | Q L K A p.360
. . . . . . g.74844
TGTAGTGAAGAACAAGAAGACAGAGAATGTTTGAACCAAGCTATTACTGCTCTCATGAAT c.1140
C S E E Q E D R E C L N Q A I T A L M N p.380
. . . . . | 10 . g.76299
CTCCAAGGTAGCATGGACCGAATTTACAAGCAGTATTCACCTAGACGTCGACCTGG | AGAT c.1200
L Q G S M D R I Y K Q Y S P R R R P G | D p.400
. . . . . . g.76359
CCTGTTTGCCCTTTTTATAGTCACCAATTAAGAAGCAAACACCTGGCTATCAAAAAAATG c.1260
P V C P F Y S H Q L R S K H L A I K K M p.420
. . . . . . g.76419
AATGAAATTCAGAAAAATATCGATGGATGGGAAGGCAAAGATATTGGACAGTGTTGTAAT c.1320
N E I Q K N I D G W E G K D I G Q C C N p.440
. . . . . . g.76479
GAATTCATTATGGAGGGACCATTGACAAGAATCGGTGCCAAACATGAACGGCATATTTTT c.1380
E F I M E G P L T R I G A K H E R H I F p.460
. . . . . . g.76539
CTGTTTGATGGCTTAATGATCAGTTGTAAACCTAATCATGGCCAGACTCGGCTTCCAGGT c.1440
L F D G L M I S C K P N H G Q T R L P G p.480
. . . . . . g.76599
TACAGTAGTGCAGAATACAGGTTAAAAGAAAAATTTGTCATGAGGAAAATACAAATTTGT c.1500
Y S S A E Y R L K E K F V M R K I Q I C p.500
. . . . . . g.76659
GATAAAGAAGATACTTGTGAGCACAAGCATGCATTTGAATTAGTATCCAAAGATGAGAAC c.1560
D K E D T C E H K H A F E L V S K D E N p.520
. . . . . . g.76719
AGCATAATATTTGCTGCTAAGTCTGCTGAAGAAAAAAACAACTGGATGGCAGCCCTTATT c.1620
S I I F A A K S A E E K N N W M A A L I p.540
. . . . . . g.76779
TCTCTTCATTATCGTAGTACTCTAGATCGAATGTTAGATTCAGTATTATTGAAAGAAGAA c.1680
S L H Y R S T L D R M L D S V L L K E E p.560
. . . . . . g.76839
AATGAGCAACCACTGAGATTACCAAGTCCTGAAGTATATCGTTTTGTAGTAAAAGACTCT c.1740
N E Q P L R L P S P E V Y R F V V K D S p.580
. . . . . . g.76899
GAGGAAAACATTGTTTTTGAAGACAACTTGCAAAGTAGAAGTGGCATCCCCATTATTAAA c.1800
E E N I V F E D N L Q S R S G I P I I K p.600
. . . . . | 11 . g.77743
GGAGGAACTGTAGTGAAATTAATTGAAAGGTTAACATATCATATGTATGCAG | ATCCCAAT c.1860
G G T V V K L I E R L T Y H M Y A D | P N p.620
. . . . . . g.77803
TTTGTTCGTACTTTTCTTACCACATATCGTTCATTTTGTAAACCACAGGAATTGCTGAGC c.1920
F V R T F L T T Y R S F C K P Q E L L S p.640
. | 12 . . . . . g.79306
TTACTGATTGAACG | GTTTGAAATTCCAGAGCCAGAACCTACTGACGCAGACAAATTGGCA c.1980
L L I E R | F E I P E P E P T D A D K L A p.660
. . . . . . g.79366
ATAGAGAAAGGCGAGCAGCCAATCAGTGCAGACCTTAAAAGATTTCGCAAGGAATATGTC c.2040
I E K G E Q P I S A D L K R F R K E Y V p.680
. | 13. . . . . g.83251
CAACCAGTACAACTTAG | GATCTTAAATGTATTTCGGCATTGGGTTGAACATCATTTTTAT c.2100
Q P V Q L R | I L N V F R H W V E H H F Y p.700
. . . . . . g.83311
GACTTTGAAAGAGACTTGGAATTGCTTGAAAGACTAGAATCCTTCATTTCAAGTGTAAGA c.2160
D F E R D L E L L E R L E S F I S S V R p.720
| 14 . . . . . . g.86210
G | GGAAAGCTATGAAAAAATGGGTAGAGTCAATTGCTAAGATCATCAGGAGGAAGAAGCAA c.2220
G | K A M K K W V E S I A K I I R R K K Q p.740
. . . . . . g.86270
GCTCAGGCAAACGGAGTAAGCCATAATATTACCTTTGAAAGTCCACCTCCACCAATTGAA c.2280
A Q A N G V S H N I T F E S P P P P I E p.760
. . . . . . g.86330
TGGCATATCAGCAAACCAGGACAGTTTGAAACATTTGATCTCATGACACTTCATCCAATA c.2340
W H I S K P G Q F E T F D L M T L H P I p.780
. . . . | 15 . . g.90801
GAAATTGCACGTCAGCTGACACTTTTGGAGTCTGATCTTTACAG | GAAAGTTCAACCGTCT c.2400
E I A R Q L T L L E S D L Y R | K V Q P S p.800
. . . . . . g.90861
GAACTTGTAGGGAGTGTGTGGACCAAAGAAGATAAAGAAATAAATTCTCCAAATTTATTA c.2460
E L V G S V W T K E D K E I N S P N L L p.820
. . . . | 16 . . g.91065
AAAATGATTCGCCATACCACAAATCTCACCCTCTGGTTTGAAAA | ATGCATTGTGGAAGCA c.2520
K M I R H T T N L T L W F E K | C I V E A p.840
. . . . . . g.91125
GAAAATTTTGAAGAACGGGTGGCAGTACTAAGTAGAATTATAGAAATTCTGCAAGTTTTT c.2580
E N F E E R V A V L S R I I E I L Q V F p.860
. . . . . . g.91185
CAAGATTTGAATAATTTCAATGGCGTATTGGAGATAGTCAGTGCAGTAAATTCAGTGTCA c.2640
Q D L N N F N G V L E I V S A V N S V S p.880
. . | 17. . . . g.96355
GTATACAGACTAGACCATACCTTTGAG | GCACTGCAGGAAAGGAAAAGGAAAATTTTGGAC c.2700
V Y R L D H T F E | A L Q E R K R K I L D p.900
. . . . . . g.96415
GAAGCTGTGGAATTAAGTCAAGATCACTTTAAAAAATACCTAGTAAAACTTAAGTCAATC c.2760
E A V E L S Q D H F K K Y L V K L K S I p.920
. . | 18 . . . . g.97632
AATCCACCTTGTGTGCCTTTTTTTG | GAATATATTTAACAAATATTCTGAAGACCGAAGAA c.2820
N P P C V P F F G | I Y L T N I L K T E E p.940
. . . . . . g.97692
GGGAATAATGATTTTTTAAAAAAGAAAGGGAAAGATTTAATCAATTTCAGTAAGAGGAGG c.2880
G N N D F L K K K G K D L I N F S K R R p.960
. . . . . . g.97752
AAAGTAGCTGAAATTACTGGAGAAATTCAGCAGTATCAGAATCAGCCTTACTGTTTACGG c.2940
K V A E I T G E I Q Q Y Q N Q P Y C L R p.980
. | 19 . . . . g.102184
ATAGAACCAGATATGAGG | AGATTCTTTGAAAACCTTAACCCCATGGGAAGTGCATCTGAA c.3000
I E P D M R | R F F E N L N P M G S A S E p.1000
. . . . . . g.102244
AAAGAGTTTACAGATTATTTGTTCAACAAGTCACTAGAAATTGAACCTCGAAACTGCAAA c.3060
K E F T D Y L F N K S L E I E P R N C K p.1020
. | 20 . . . . . g.105664
CAGCCACCTCGATTT | CCTAGGAAATCAACTTTTTCCTTAAAATCTCCTGGAATAAGGCCT c.3120
Q P P R F | P R K S T F S L K S P G I R P p.1040
. . . . . . g.105724
AACACAGGCCGACATGGCTCTACCTCAGGTACTTTACGAGGTCACCCAACACCATTAGAA c.3180
N T G R H G S T S G T L R G H P T P L E p.1060
. . . . . . g.105784
AGAGAACCATGTAAAATAAGCTTTAGTCGGATTGCTGAAACTGAGCTGGAATCAACAGTG c.3240
R E P C K I S F S R I A E T E L E S T V p.1080
. . . . . . g.105844
TCAGCACCAACCTCTCCAAATACACCATCTACTCCACCAGTATCTGCTTCTTCAGACCTT c.3300
S A P T S P N T P S T P P V S A S S D L p.1100
. . . | 21. . . g.106402
AGTGTATTTTTAGATGTGGATCTCAACAGCTCCTGTG | GCAGCAATAGCATCTTTGCTCCA c.3360
S V F L D V D L N S S C G | S N S I F A P p.1120
. | 22 . . . . g.116038
GTGCTTTTGCCACATTCAA | AGTCTTTCTTTAGTTCATGTGGTAGTTTACATAAACTAAGT c.3420
V L L P H S K | S F F S S C G S L H K L S p.1140
. . . . . . g.116098
GAAGAGCCCCTGATTCCTCCTCCTCTTCCTCCTCGAAAAAAGTTTGATCATGATGCTTCA c.3480
E E P L I P P P L P P R K K F D H D A S p.1160
| 23 . . . . . g.117579
AATTCCAAG | GGAAATATGAAATCTGATGATGATCCTCCTGCTATTCCACCGAGACAGCCT c.3540
N S K | G N M K S D D D P P A I P P R Q P p.1180
. . . . . . g.117639
CCTCCTCCAAAGGTAAAACCCAGAGTTCCTGTTCCTACTGGTGCATTTGATGGGCCTCTG c.3600
P P P K V K P R V P V P T G A F D G P L p.1200
. . . . . . g.117699
CATAGTCCACCTCCGCCACCACCAAGAGATCCTCTTCCTGATACCCCTCCACCAGTTCCC c.3660
H S P P P P P P R D P L P D T P P P V P p.1220
. . . . . . g.117759
CTTCGGCCTCCAGAACACTTTATAAACTGTCCATTTAATCTTCAGCCACCTCCACTGGGG c.3720
L R P P E H F I N C P F N L Q P P P L G p.1240
. . . . . . g.117819
CATCTTCACAGAGATTCAGACTGGCTCAGAGACATTAGTACGTGTCCAAATTCGCCAAGC c.3780
H L H R D S D W L R D I S T C P N S P S p.1260
. . . . . . g.117879
ACTCCTCCTAGCACACCCTCTCCAAGGGTACCGCGTCGATGCTATGTGCTCAGTTCTAGT c.3840
T P P S T P S P R V P R R C Y V L S S S p.1280
. . . . . . g.117939
CAGAATAATCTTGCTCATCCTCCAGCTCCCCCTGTTCCACCAAGGCAGAATTCAAGCCCT c.3900
Q N N L A H P P A P P V P P R Q N S S P p.1300
. . . . . . g.117999
CATCTGCCAAAACTGCCACCAAAGACTTACAAACGGGAGCTTTCGCACCCCCCATTGTAC c.3960
H L P K L P P K T Y K R E L S H P P L Y p.1320
. . . g.118038
AGACTGCCTTTGCTAGAAAATGCAGAAACTCCCCAATGA c.3999
R L P L L E N A E T P Q X p.1332
. . . . . . g.118098
ccttagccatatgtagtcattgacactggaatggtatttgtaaagttttttttttaattt c.*60
. . . . . . g.118158
attcaaaaaaagacatagtattttagtactttttacaaataatgctcttacaaaaatgct c.*120
. . . . . . g.118218
actgatcaaataagcttttaagaattggaaaaataaaaatacaaaagtccttcaccatta c.*180
. . . . . . g.118278
tcctcaggtgatcagtagcattgccttgtcttggatcctcagtgctgccaaaaggccagt c.*240
. . . . . . g.118338
ataaagaatttatatttgcactgtaaactctgcaaaaatatggtttaaagtgacatgatt c.*300
. . . . . . g.118398
gcactgaaaagggatagtgcttttgtgaaatttttcaaatttgagtaatagatgcctttt c.*360
. . . . . . g.118458
taaggcagtgaatttacacaaatatgggaggggtatatggtgttactgatttttaaacct c.*420
. . . . . . g.118518
ctttgaccatcttctagtttttacttctagtttttacatctaggagaattgtgaataaca c.*480
. . . . . . g.118578
ccaactgttcttaaactctttaatgccatgtcttaaatgccggtatttgctgctgaagac c.*540
. . . . . . g.118638
aaaaatgaaaagtaggatgaaaataatagaatggcactgtaagtgtttattattttgtca c.*600
. . . . . . g.118698
aaatgtaaacaaagactacataacccaatgatggagggaaaaagggcatgtatctcattc c.*660
. . . . . . g.118758
agatgtgccttttgtttttgcagactatgacgtctttagctaatgaattgcctattgtta c.*720
. . . . . . g.118818
tggaaaacagttaatatgccatgtatgtacagttttgtttatattgtatatttaaagata c.*780
. . . . . . g.118878
ctgctaataacctatataaatttaagtgacttgaggcctataatacaatctgctacttta c.*840
. . . . . . g.118938
ctaattcataaattcaaaaaaaattctatggcataggaaccaactgccttgccttcaaga c.*900
. . . . . . g.118998
cctagtaactttctctataaatctcgtgttaactgaaattttttttaaatatatttttta c.*960
. . . . . . g.119058
gattggtaatatttaaaccagcaaatacttaaagctttattaaacattttaatcagataa c.*1020
. . . . . . g.119118
gtgagtaaagcttttatttgccatttggatgccttcgttcaaagtgatagagtgttttgc c.*1080
. . . . . . g.119178
tgatagtgctgtagcagcagttgtaaagtagccaaaagccacgttgtttatttactggtt c.*1140
. . . . . . g.119238
tgtggccttttactgtgctttgtatcagagttcttaacaagattaataaatcaccccagt c.*1200
. g.119254
cttaatttttaaaaga c.*1216
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center