(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RAD50 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering RAD50 transcript NM_005732.3.
(upstream sequence)
. . . . g.1041
tttcccggcgtgccccaggagagcggcgtggacgcgtgcgg c.-361
. . . . . . g.1101
gcctagaggcccacgtgatccgcagggcggccgaggcaggaagctgtgagtgcgcggttg c.-301
. . . . . . g.1161
cggggtcgcattgtggctacggctttgcgtccccggcgggcagccccaggctggtccccg c.-241
. . . . . . g.1221
cctccgctctccccaccggcggggaaagcagctggtgtgggaggaaaggctccatccccc c.-181
. . . . . . g.1281
gccccctctctcccgctgttggctggcaggatcttttggcagtcctgtggcctcgctccc c.-121
. . . . . . g.1341
cgcccggatcctcctgaccctgagattcgcgggtctcacgtcccgtgcacgccttgcttc c.-61
. . . . . . g.1401
ggcctcagttaagcctttgtgggctccaggtccctggtgagattagaaacgtttgcaaac c.-1
. . . . . . g.1461
ATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAA c.60
M S R I E K M S I L G V R S F G I E D K p.20
. . . . . . g.1521
GATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCG c.120
D K Q I I T F F S P L T I L V G P N G A p.40
| 02 . . . . . g.3411
GGAAAGACG | ACCATCATTGAATGTCTAAAATATATTTGTACTGGAGATTTCCCTCCTGGA c.180
G K T | T I I E C L K Y I C T G D F P P G p.60
. . . | 03 . . . g.19880
ACCAAAGGAAATACATTTGTACACGATCCCAAG | GTTGCTCAAGAAACAGATGTGAGAGCC c.240
T K G N T F V H D P K | V A Q E T D V R A p.80
. . . . . . g.19940
CAGATTCGTCTGCAATTTCGTGATGTCAATGGAGAACTTATAGCTGTGCAAAGATCTATG c.300
Q I R L Q F R D V N G E L I A V Q R S M p.100
. . . . . . g.20000
GTGTGTACTCAGAAAAGCAAAAAGACAGAATTTAAAACTCTGGAAGGAGTCATTACTAGA c.360
V C T Q K S K K T E F K T L E G V I T R p.120
| 04 . . . . . . g.23448
ACAAA | GCATGGTGAAAAGGTCAGTCTGAGCTCTAAGTGTGCAGAAATTGACCGAGAAATG c.420
T K | H G E K V S L S S K C A E I D R E M p.140
. . . . . . g.23508
ATCAGTTCTCTTGGGGTTTCCAAGGCTGTGCTAAATAATGTCATTTTCTGTCATCAAGAA c.480
I S S L G V S K A V L N N V I F C H Q E p.160
. . . . . . g.23568
GATTCTAATTGGCCTTTAAGTGAAGGAAAGGCTTTGAAGCAAAAGTTTGATGAGATTTTT c.540
D S N W P L S E G K A L K Q K F D E I F p.180
. | 05 . . . . . g.23987
TCAGCAACAAG | ATACATTAAAGCCTTAGAAACACTTCGGCAGGTACGTCAGACACAAGGT c.600
S A T R | Y I K A L E T L R Q V R Q T Q G p.200
. . . . . . g.24047
CAGAAAGTAAAAGAATATCAAATGGAACTAAAATATCTGAAGCAATATAAGGAAAAAGCT c.660
Q K V K E Y Q M E L K Y L K Q Y K E K A p.220
. . . . . . g.24107
TGTGAGATTCGTGATCAGATTACAAGTAAGGAAGCCCAGTTAACATCTTCAAAGGAAATT c.720
C E I R D Q I T S K E A Q L T S S K E I p.240
. . . | 06 . . . g.31662
GTCAAATCCTATGAGAATGAACTTGATCCATTGAAG | AATCGTCTAAAAGAAATTGAACAT c.780
V K S Y E N E L D P L K | N R L K E I E H p.260
. . . . . . g.31722
AATCTCTCTAAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAG c.840
N L S K I M K L D N E I K A L D S R K K p.280
. . . . | 07 . . g.32015
CAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAG | GTTTTTCAAGGGACT c.900
Q M E K D N S E L E E K M E K | V F Q G T p.300
. . . . . . g.32075
GATGAGCAACTAAATGACTTATATCACAATCACCAGAGAACAGTAAGGGAGAAAGAAAGG c.960
D E Q L N D L Y H N H Q R T V R E K E R p.320
. . . . . . g.32135
AAATTGGTAGACTGTCATCGTGAACTGGAAAAACTAAATAAAGAATCTAGGCTTCTCAAT c.1020
K L V D C H R E L E K L N K E S R L L N p.340
. . . | 08 . . . g.32792
CAGGAAAAATCAGAACTGCTTGTTGAACAGG | GTCGTCTACAGCTGCAAGCAGATCGCCAT c.1080
Q E K S E L L V E Q G | R L Q L Q A D R H p.360
. . . . . . g.32852
CAAGAACATATCCGAGCTAGAGATTCATTAATTCAGTCTTTGGCAACACAGCTAGAATTG c.1140
Q E H I R A R D S L I Q S L A T Q L E L p.380
. . . . . . g.32912
GATGGCTTTGAGCGTGGACCATTCAGTGAAAGACAGATTAAAAATTTTCACAAACTTGTG c.1200
D G F E R G P F S E R Q I K N F H K L V p.400
. . . . | 09 . . g.33722
AGAGAGAGACAAGAAGGGGAAGCAAAAACTGCCAACCAACTGATG | AATGACTTTGCAGAA c.1260
R E R Q E G E A K T A N Q L M | N D F A E p.420
. . . . . . g.33782
AAAGAGACTCTGAAACAAAAACAGATAGATGAGATAAGAGATAAGAAAACTGGACTGGGA c.1320
K E T L K Q K Q I D E I R D K K T G L G p.440
. . . . . . g.33842
AGAATAATTGAGTTAAAATCAGAAATCCTAAGTAAGAAGCAGAATGAGCTGAAAAATGTG c.1380
R I I E L K S E I L S K K Q N E L K N V p.460
. . . . . . g.33902
AAGTATGAATTACAGCAGTTGGAAGGATCTTCAGACAGGATTCTTGAACTGGACCAGGAG c.1440
K Y E L Q Q L E G S S D R I L E L D Q E p.480
. | 10 . . . . . g.35348
CTCATAAAAGCT | GAACGTGAGTTAAGCAAGGCTGAGAAAAACAGCAATGTAGAAACCTTA c.1500
L I K A | E R E L S K A E K N S N V E T L p.500
. . . . . . g.35408
AAAATGGAAGTAATAAGTCTCCAAAATGAAAAAGCAGACTTAGACAGGACCCTGCGTAAA c.1560
K M E V I S L Q N E K A D L D R T L R K p.520
. . . . . . g.35468
CTTGACCAGGAGATGGAGCAGTTAAACCATCATACAACAACACGTACCCAAATGGAGATG c.1620
L D Q E M E Q L N H H T T T R T Q M E M p.540
. | 11 . . . . . g.35998
CTGACCAAAGACAAA | GCTGACAAAGATGAACAAATCAGAAAAATAAAATCTAGGCACAGT c.1680
L T K D K | A D K D E Q I R K I K S R H S p.560
. . . . . . g.36058
GATGAATTAACCTCACTGTTGGGATATTTTCCCAACAAAAAACAGCTTGAAGACTGGCTA c.1740
D E L T S L L G Y F P N K K Q L E D W L p.580
. . . . . | 12 . g.38952
CATAGTAAATCAAAAGAAATTAATCAGACCAGGGACAGACTTGCCAAATTGAA | CAAGGAA c.1800
H S K S K E I N Q T R D R L A K L N | K E p.600
. . . . . . g.39012
CTAGCTTCATCTGAGCAGAATAAAAATCATATAAATAATGAACTAAAAAGAAAGGAAGAG c.1860
L A S S E Q N K N H I N N E L K R K E E p.620
. . . . . . g.39072
CAGTTGTCCAGTTACGAAGACAAGCTGTTTGATGTTTGTGGTAGCCAGGATTTTGAAAGT c.1920
Q L S S Y E D K L F D V C G S Q D F E S p.640
. . . . | 13 . g.39660
GATTTAGACAGGCTTAAAGAGGAAATTGAAAAATCATCAAAACAGCGAG | CCATGCTGGCT c.1980
D L D R L K E E I E K S S K Q R A | M L A p.660
. . . . . . g.39720
GGAGCCACAGCAGTTTACTCCCAGTTCATTACTCAGCTAACAGACGAAAACCAGTCATGT c.2040
G A T A V Y S Q F I T Q L T D E N Q S C p.680
. . . . . . g.39780
TGCCCCGTTTGTCAGAGAGTTTTTCAGACAGAGGCTGAGTTACAAGAAGTCATCAGTGAT c.2100
C P V C Q R V F Q T E A E L Q E V I S D p.700
. . . . . . g.39840
TTGCAGTCTAAACTGCGACTTGCTCCAGATAAACTCAAGTCAACAGAATCAGAGCTAAAA c.2160
L Q S K L R L A P D K L K S T E S E L K p.720
. . . . | 14. . g.47389
AAAAAGGAAAAGCGGCGTGATGAAATGCTGGGACTTGTGCCCATGAG | GCAAAGCATAATT c.2220
K K E K R R D E M L G L V P M R | Q S I I p.740
. . . . . . g.47449
GATTTGAAGGAGAAGGAAATACCAGAATTAAGAAACAAACTGCAGAATGTCAATAGAGAC c.2280
D L K E K E I P E L R N K L Q N V N R D p.760
. . . . . . g.47509
ATACAGCGCCTAAAGAACGACATAGAAGAACAAGAAACACTCTTGGGTACAATAATGCCT c.2340
I Q R L K N D I E E Q E T L L G T I M P p.780
. . . . . | 15. g.47999
GAAGAAGAAAGTGCCAAAGTATGCCTGACAGATGTTACAATTATGGAGAGGTTCCAG | ATG c.2400
E E E S A K V C L T D V T I M E R F Q | M p.800
. . . . . . g.48059
GAACTTAAAGATGTTGAAAGAAAAATTGCACAACAAGCAGCTAAGCTACAAGGAATAGAC c.2460
E L K D V E R K I A Q Q A A K L Q G I D p.820
. . . . . . g.48119
TTAGATCGAACTGTCCAACAAGTCAACCAGGAGAAACAAGAGAAACAGCACAAGTTAGAC c.2520
L D R T V Q Q V N Q E K Q E K Q H K L D p.840
| 16 . . . . . . g.48938
ACAG | TTTCTAGTAAGATTGAATTGAATCGTAAGCTTATACAGGACCAGCAGGAACAGATT c.2580
T V | S S K I E L N R K L I Q D Q Q E Q I p.860
. . . . . . g.48998
CAACATCTAAAAAGTACAACAAATGAGCTAAAATCTGAGAAACTTCAGATATCCACTAAT c.2640
Q H L K S T T N E L K S E K L Q I S T N p.880
. . . . . . g.49058
TTGCAACGTCGTCAGCAACTGGAGGAGCAGACTGTGGAATTATCCACTGAAGTTCAGTCT c.2700
L Q R R Q Q L E E Q T V E L S T E V Q S p.900
. | 17 . . . . g.52733
TTGTACAGAGAGATAAAG | GATGCTAAAGAGCAGGTAAGCCCTTTGGAAACAACATTGGAA c.2760
L Y R E I K | D A K E Q V S P L E T T L E p.920
. . . . . . g.52793
AAGTTCCAGCAAGAAAAAGAAGAATTAATCAACAAAAAAAATACAAGCAACAAAATAGCA c.2820
K F Q Q E K E E L I N K K N T S N K I A p.940
| 18 . . . . . g.53244
CAGGATAAA | CTGAATGATATTAAAGAGAAGGTTAAAAATATTCATGGCTATATGAAAGAC c.2880
Q D K | L N D I K E K V K N I H G Y M K D p.960
. . . . | 19 . . g.53377
ATTGAGAATTATATTCAAGATGGGAAAGACGACTATAAGAAG | CAAAAAGAAACTGAACTT c.2940
I E N Y I Q D G K D D Y K K | Q K E T E L p.980
. . . . . . g.53437
AATAAAGTAATAGCTCAACTAAGTGAATGCGAGAAACACAAAGAAAAGATAAATGAAGAT c.3000
N K V I A Q L S E C E K H K E K I N E D p.1000
. . . | 20 . . . g.60103
ATGAGACTCATGAGACAAGATATTGATACACAGAAG | ATACAAGAAAGGTGGCTACAAGAT c.3060
M R L M R Q D I D T Q K | I Q E R W L Q D p.1020
. . . . . . g.60163
AACCTTACTTTAAGAAAAAGAAATGAGGAACTAAAAGAAGTTGAAGAAGAAAGAAAACAA c.3120
N L T L R K R N E E L K E V E E E R K Q p.1040
. . . . | 21 . . g.62162
CATTTGAAGGAAATGGGTCAAATGCAGGTTTTGCAAATGAAAAG | TGAACATCAGAAGTTG c.3180
H L K E M G Q M Q V L Q M K S | E H Q K L p.1060
. . . . . . g.62222
GAAGAGAACATAGACAATATAAAAAGAAATCATAATTTGGCATTAGGGCGACAGAAAGGT c.3240
E E N I D N I K R N H N L A L G R Q K G p.1080
. . . . . . g.62282
TATGAAGAAGAAATTATTCATTTTAAGAAAGAACTTCGAGAACCACAATTTCGGGATGCT c.3300
Y E E E I I H F K K E L R E P Q F R D A p.1100
. . . . . . g.62342
GAGGAAAAGTATAGAGAAATGATGATTGTTATGAGGACAACAGAACTTGTGAACAAGGAT c.3360
E E K Y R E M M I V M R T T E L V N K D p.1120
. . | 22 . . . g.81222
CTGGATATTTATTATAAGACTCTTGACCA | AGCAATAATGAAATTTCACAGTATGAAAATG c.3420
L D I Y Y K T L D Q | A I M K F H S M K M p.1140
. . . . . | 23 . g.82162
GAAGAAATCAATAAAATTATACGTGACCTGTGGCGAAGTACCTATCGTGGACAAG | ATATT c.3480
E E I N K I I R D L W R S T Y R G Q D | I p.1160
. . . . . . g.82222
GAATACATAGAAATACGGTCTGATGCCGATGAAAATGTATCAGCTTCTGATAAAAGGCGG c.3540
E Y I E I R S D A D E N V S A S D K R R p.1180
. . . . . . g.82282
AATTATAACTACCGAGTGGTGATGCTGAAGGGAGACACAGCCTTGGATATGCGAGGACGA c.3600
N Y N Y R V V M L K G D T A L D M R G R p.1200
. | 24 . . . . g.84790
TGCAGTGCTGGACAAAAG | GTATTAGCCTCACTCATCATTCGCCTGGCCCTGGCTGAAACG c.3660
C S A G Q K | V L A S L I I R L A L A E T p.1220
. . . . . . g.84850
TTCTGCCTCAACTGTGGCATCATTGCCTTGGATGAGCCAACAACAAATCTTGACCGAGAA c.3720
F C L N C G I I A L D E P T T N L D R E p.1240
. . . | 25 . . . g.86282
AACATTGAATCTCTTGCACATGCTCTGGTTGA | GATAATAAAAAGTCGCTCACAGCAGCGT c.3780
N I E S L A H A L V E | I I K S R S Q Q R p.1260
. . . . . . g.86342
AACTTCCAGCTTCTGGTAATCACTCATGATGAAGATTTTGTGGAGCTTTTAGGACGTTCT c.3840
N F Q L L V I T H D E D F V E L L G R S p.1280
. . . . . . g.86402
GAATATGTGGAGAAATTCTACAGGATTAAAAAGAACATCGATCAGTGCTCAGAGATTGTG c.3900
E Y V E K F Y R I K K N I D Q C S E I V p.1300
. . . g.86441
AAATGCAGTGTTAGCTCCCTGGGATTCAATGTTCATTAA c.3939
K C S V S S L G F N V H X p.1312
. . . . . . g.86501
aaatatccaagatttaaatgccatagaaatgtaggtcctcagaaagtgtataataagaaa c.*60
. . . . . . g.86561
cttatttctcatatcaacttagtcaataagaaaatatattctttcaaaggaacattgtgt c.*120
. . . . . . g.86621
ctaggattttggatgttgagaggttctaaaatcatgaaacttgtttcactgaaaattgga c.*180
. . . . . . g.86681
cagattgcctgtttctgatttgctgctcttcatcccattccaggcagcctctgtcaggcc c.*240
. . . . . . g.86741
ttcagggttcagcagtacagccgagactcgactctgtgcctccctccccagtgcaaatgc c.*300
. . . . . . g.86801
atgcttcttctcaaagcactgttgagaaggagataattactgccttgaaaatttatggtt c.*360
. . . . . . g.86861
ttggtatttttttaaatcatagttaaatgttacctctgaatttacttccttgcatgtggt c.*420
. . . . . . g.86921
ttgaaaaactgagtattaatatctgaggatgaccagaaatggtgagatgtatgtttggct c.*480
. . . . . . g.86981
ctgcttttaactttataaatccagtgacctctctctctgggacttggtttccccaactaa c.*540
. . . . . . g.87041
aatttgaagtagttgaatggggtctcaaagtttgacaggaaccttaagtaatcatctaag c.*600
. . . . . . g.87101
tcagtacccaccaccttcttctcctacatatcccttccagatggtcatccagactcagag c.*660
. . . . . . g.87161
ctctctctacagagaggaaattctccactgtgcacacccacctttggaaagctctgacca c.*720
. . . . . . g.87221
cttgaggcctgatctgcccatcgtgaagaagcctgtaacactcctctgcgtctatcctgt c.*780
. . . . . . g.87281
gtagcatactggcttcaccatcaatcctgattcctctctaagtgggcattgccatgtgga c.*840
. . . . . . g.87341
aggcaagccaggctcactcacagagtcaaggcctgctccctgtagggtccaaccagacct c.*900
. . . . . . g.87401
ggaagaacaggcctctccatttgctcttcagatgccacttctaagaaaagcctaatcaca c.*960
. . . . . . g.87461
gtttttcctggaattgccagctgacatcttgaatccttccattccacacagaatgcaacc c.*1020
. . . . . . g.87521
aagtcacacgcttttgaattatgctttgtagagttttgtcattcagagtcagccaggacc c.*1080
. . . . . . g.87581
ataccgggtcttgattcagtcacatggcatggttttgtgccatctgtagctataatgagc c.*1140
. . . . . . g.87641
atgtttgcctagacagcttttctcaactgggtccagaagagaattaagccctaaggtcct c.*1200
. . . . . . g.87701
aaggcatctatctgtgctaggttaaatggttggcccccaaagatagacaggtcctgattt c.*1260
. . . . . . g.87761
ctagaacccgtgactgttactttatacagcaaaggaaactttgcagatgtgattaaagct c.*1320
. . . . . . g.87821
aaggaccttaagacagagtatcctgggggtggtggtggggtgggggggggtcctaaatgt c.*1380
. . . . . . g.87881
aatcacgagtaagattaagagcaaatcaattctagtcatatattaaacatccacaataac c.*1440
. . . . . . g.87941
caagatatttttatcccaagaatgcaagatttcagaaaatgaaaaatctgttgataaatc c.*1500
. . . . . . g.88001
catcactataataaaaccgaaggtgaaaaaaattctgaaaaaattctagcagctatattt c.*1560
. . . . . . g.88061
gataaaattcaacatctcctagctttagcaaactcacagttttgcaaataatattttctt c.*1620
. . . . . . g.88121
aatgttatctgttgctaaatcaaaattaaacagtcatcttaactgcaaaataaaacattt c.*1680
. . . . . . g.88181
ctcagtaaatattaaagccagttaccttctatcaacatgttaatgaaagtgctagttgtt c.*1740
. . . . . . g.88241
gcagcaaagaataacaaaggcaatacacgatcaatataggcagtgaaacaaaagtatcat c.*1800
. . . . . . g.88301
ttgcaagttaaaacagacttcccaattttaaatctggtttccccctgaatatgtggcatc c.*1860
. . . . . . g.88361
cttggcagcacttctgagagtggctgctttcattccaagaagcccatgggtttggaggtg c.*1920
. . . . . . g.88421
ggataggtgcctttctggcttctcattgctgcttctagatcagtctccaaatatccccct c.*1980
. . . . . . g.88481
tccccacattggaatgaatagccatcacagcatggatggaggttagaatgagccagactg c.*2040
. . . . . . g.88541
cctgggctcaaatcctagcacaccactcactagctggggaccttgagcaagttatttgtc c.*2100
. . . . . . g.88601
ctgttttctgtttccttatatgtaaaagtgggtaaaatggtacatattttgtagggttgt c.*2160
. . . . . . g.88661
tatgaagattgaatgacattatttacaaactgcttagaactgcttgccacctactaaata c.*2220
. . . g.88698
ctgtgtaagtgttcaagaaaaagctgtcttcatttca c.*2257
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center