Type I (Classical) deficiency: Point mutations, small (less than 30 bp) insertions and deletions
| New | Nucleotide Position, Mutation | Codon, Amino Acid Change | Comments | Unique ID | A% | F% | Ref | CpG | S/M | Mut. type |
| New | 2418A>C | Y-16S | 1 | (95) | N | S | MM | |||
| New | 2436T>C | L-10P | 2 | (95) | N | S | MM | |||
| New | 2455C>A | C-4X | 3 | 50 | 50 | (96) | N | S | NM | |
| New | 2463delGinsTC | -1 | frameshift; stop codon 32 | 4 | 40 | 33 | (1) | N | S | FD/FI |
| New | 2487-8*insG | 8 | frameshift; stop codon 32 | 5 | (2) | N | S | FI | ||
| New | 2510-2512*delC | 16 | frameshift; stop codon 17 | 6 | 70 | (2) | N | S | FD | |
| New | 2527C>A | C21X | Loses BspW I site | 7 | (95) | N | S | NM | ||
| New | 2571-2580delCAGAA | 36-37, or 38-39 | frameshift; stop codon 70 | 8 | 57 | (95) | N | S | FD | |
| New | 2599-600*delC | 45 or 46 | frameshift; stop codon 81 | 9 | 46 | 49 | (3) | N | S | FD |
| 2601-2*delG | 46 | frameshift; stop codon 81 | 10 | 25/37 | (4) | N | S | FD | ||
| 2606insT | 48 | frameshift; stop codon 72 | 11 | 45 | 40/43 | (5) | N | S | FI | |
| 2610-31del22bp insA | 49-56 | Creates Acc I site | 12 | (6) | N | S | ID/I | |||
| 2627-29delAAT | 55 | Deletes N;Double mutation, also R57C | 13 | 60 | 56 | (6) | N | S | ID | |
| 2633C>T | R57C | Double mutation, also 55(-AAT)Loses Fau I site | 14 | (6) | Y | S | MM | |||
| 2638T>G | F58L | Type I or II? Budapest 6 | 15 | 45 | 55 | (95) | N | S | MM | |
| New | 2652A>G | Y63C | 16 | (2) | N | S | MM | |||
| New | 2652A>C | Y63S | Creates DdeI site | 17 | 42 | 36 | (1) | N | S | MM |
| New | 2661T>C | L66P | Loses AlwN I, BstN I, EcoR I sites and gains BcN I, Nci I, Apa I and Msp I sites | 18 | 55 | (95) | N | S | MM | |
| 2690-95delATTTTC | 76-77 | deletes I, F | 19 | 49 | 49/51 | (3) | N | S | ID | |
| New | 2702C>A | P80T | 20 | 63 | 54 | (7) | N | S | MM | |
| 2705-6delCT | 81 | frameshift; stop codon 95 | 21 | 68 | 59 | (6) | N | S | FD | |
| 2706delT | 81 | frameshift; stop codon 89 | 22 | 53 | 47 | (8) | N | S | FD | |
| New | 2765C>A | Q101K | 23 | 50 | 50 | (9) | N | S | MM | |
| 2770insT | 102 | frameshift; stop codon 107 | 24 | 43 | 43/51 | (4) | N | M (2) | FI | |
| 2770insT | 102 | frameshift; stop codon 107 | style="TEXT-ALIGN: center">25 | 43 | 41/50 | (4) | ||||
| New | 2777G>C | 1st nt. intron 2loses Mnl I, Rsa I, Csp6 I sites and gains Alu I site | 26 | 50 | 55 | (95) | N | S | SS | |
| New | 5306G>C | last nt. intron 2Loses Sfe I site and gains Mae II, SnaB I and BsaA I sites | 27 | (95) | N | S | SS | |||
| 5311-5320*del6bp | 106-108 | deletes F and K | 28 | 60 | 51 | (10) | N | M (3) | ID | |
| 5311-5320*del6bp | 106-108 | deletes F and K | 29 | (10) | ||||||
| 5311-5320*del6bp | 106-108 | deletes F and K | 30 | 52 | 64 | (11) | ||||
| 5352delT | 119 | frameshift; stop codon 126 | 31 | 60 | 63 | (12) | N | S | FD | |
| New | 5354C>T | H120Y | 32 | 62 | 69 | (7) | N | S | MM | |
| 5356-64*delCTT | 120-123 | deletes a F | 33 | 73 | 62 | (6) | N | M (2) | ID | |
| New | 5356-64*delCTT | " | deletes a F | 34 | 48 | 47 | (11) | |||
| New | 5373T>C | L126P | 35 | 52 | 54 | (9) | N | S | MM | |
| New | 5379G>A | C128Y | high MW complex | 36 | 60 | 65 | (13) | N | S | MM |
| 5381C>T | R129X | 37, 38 | <60 | <60 | (14) | Y | M (9) | NM | ||
| 5381C>T | " | 39-42 | <60 | <60 | (15) | |||||
| 5381C>T | " | 43 | (96) | |||||||
| 5381C>T | " | 44 | 50 | 50 | (11) | |||||
| New | 5381C>T | " | 45 | 49 | 50 | (1) | ||||
| New | 5390C>T | R132X | removes Taq I site | 46 | 50 | 50 | (9) | Y | M (2) | NM |
| 5390 C>T | " | 47 | 45 | 50 | (96) | |||||
| 5415T>A | L140X | 48 | 50 | 68 | (16) | N | S | NM | ||
| New | 5448-50*delC | 151-152 | frameshift; stop codon 251 | 49 | 52 | 56 | (17) | N | S | FD |
| New | 5492T>C | Y166H | Creates Rsa I, Nla III sites | 50 | 60 | 59 | (97) | N | S | MM |
| Change | 5493A>G | Y166C | Previously known as Whitechapel | 51 | 55 | 50 | (18) | N | M (3) | MM |
| 5493A>G | " | 52 | 49 | 46 | (6) | |||||
| New | 5493A>G | " | 53 | 52 | 55 | (95) | ||||
| New | 5501insA | 169 | frameshift; stop codon 192 | 54 | 42 | 40 | (1) | N | S | FI |
| 5524G>A | 176 | exon 3A donor splice site, transcript from mutant allele lacks exon 3A | 55 | 60 | 58 | (19) | N | S | SS | |
| New | 6431A>G | 5’ intron-exon splice site exon 3B. Alternative splice site creates stop codon 193 | 56 | 40 | 47 | (98) | N | S | SS | |
| New | 6457-59delATC | 186 | deletes an Ile,loses PfIM I, BsiY I sites | 57 | 50 | 56 | (2) | N | S | ID |
| 6462C>A | N187K | 58 | 121 | (20) | N | S | MM | |||
| New | 6484G>T | E195X | also GGC to GCC (G196A) | 59 | 56/59 | (2) | N | S | NM | |
| 6490C>T | R197X | 60 | 52 | 67 | (16) | Y | M (2) | NM | ||
| New | 6490C>T | " | 61 | (21) | ||||||
| 6523-24*insA | 208 | frameshift, stop codon 209 | 62 | 52 | 51/51 | (5) | N | S | FI | |
| New | 7384T>C | W225R | 63 | (97) | N | S | MM | |||
| 7392-94*insA | 228 | frameshift, stop codon 232 | 64 | <60 | <60 | (22) | N | S | FI | |
| 7428-29delCT | 239-240 | frameshift, stop codon 242 | 65 | 43 | 49/30 | (5) | N | S | FD | |
| 7445delA | 245 | frameshift, stop codon 251 | 66 | 54 | 53 | (23) | N | S | FD | |
| 7443-46*delAG | 244-245 | frameshift, stop codon 264 | 67 | 54 | 53 | (23) | N | S | FD | |
| New | 7520T>C | L270P | creates Dde I site | 68 | 50 | 47 | (9) | N | S | MM |
| New | 7522G>T | Q271X | loses Tth111 II site | 69 | (99) | N | S | NM | ||
| 7580-83*delAG | 290-291 | frameshift, stop codon 309 | 70 | <60 | <60 | (22) | N | S | FD | |
| 7596delA or delG | 295 | frameshift, stop codon 314Valine sequence variation site | 71 | 56 | 65 | (6) | N | S | FD | |
| 7634-39*del4bp | 308-309 | frameshift, stop codon 313 | 72 | <60 | <60 | (22) | N | S | FD | |
| 7644-49*delGGA | 311-313 | deletes a E | 73 | 47 | 57 | (6) | N | S | ID | |
| 7756T>C | S349P | 74 | 60 | 40 | (24) | N | S | MM | ||
| New | 7671delG | 320 | frameshift, stop codon 331 | 75 | 50 | 45 | (1) | N | S | FD |
| New | 7768-69delG | 353 | affects exon/intron 4 splice site and abolishes Bst NI site | 76 | 46 | 46 | (1) | N | S | SS |
| Change | 9788G>A | creates cryptic splice site and high MW complex, pleiotropic effect? | 77 | <60 | <60 | (13) | Y | M (3) | SS | |
| 9788G>A | creates cryptic splice site, removes Hpa II site | 78 | 52 | 59 | (6) | |||||
| New | 9788G>A | creates cryptic splice site | 79 | 64 | 58 | (17) | ||||
| 9819C>T | R359X | 80 | (6) | Y | M (2) | NM | ||||
| 9819 C>T | " | 81 | 44 | 43 | (97) | |||||
| 9852-53*delA | 370 | frameshift, stop codon 375 | 82 | 50 | 61/69 | (5) | N | S | FD | |
| New | 9858-60*delT | 372 | frameshift, stop codon 375 | 83 | 55 | 51 | (2) | N | S | FD |
| New | 9867G>T | first nt. intron 5 | 84 | 50 | (2) | N | S | SS | ||
| New | 13258T>G | S380R | 85 | 51 | 43 | (97) | N | S | MM | |
| New | 13277insACCG | 387 | frameshift, stop codon 433 | 86 | 52 | 50 | (25) | N | S | FI |
| 13278C>T | A387V | loses BspW I and NspB II sites | 87 | 60 | 50 | (26) | N | S | MM | |
| 13342insA | 408 | frameshift, stop codon 432 | 88 | <60 | <60 | (14) | N | M (2) | FI | |
| 13342insA | " | frameshift, stop codon 432 | 89 | (13) | ||||||
| 13347-51*delT | 410-411 | frameshift, stop codon 412 | 90 | (6) | N | S | FD | |||
| New | 13354delAA | 412 | frameshift, stop codon 431 | 91 | 46 | 58 | (25) | N | S | FD |
| 13354delAAGAG | 412-414 | frameshift, stop codon 430 | 92 | 43 | 30 | (11) | N | S | FD | |
| 13379insA | 421 | frameshift, stop codon 432 | 93 | 73 | (6) | N | S | FI | ||
| New | 13380T>C | I421T | abolishes Mbo II site | 94 | 46 | 45 | (1) | N | M (2) | MM |
| New | 13380T>C | " | abolishes Mbo II site | 95 | 68 | 68 | (17) | |||
| New | 13388G>C | G424R | gains Fsp I, Hha I and HinP I sites | 96 | 51 | 48 | (27) | N | S | MM |
| 13387-89*insG | 423-424 | frameshift, stop codon 432 | 97 | 75 | 52 | (8) | N | S | FI | |
| Change | 13397-405del9bp | 427-429 | deletes A, N, P also R47H. Forms high MW complex, pleiotropic effect? | 98 | (13) | N | S | ID | ||
| 13398C>A | A427D | gains Acc I site | 99 | 64 | 48 | (11) | N | S | MM | |
| New | 13407G>A | C430F | 100 | 60 | 55 | (1) | N | S | MM | |
| New | 13412-4insA | 432 | frameshift, adds extra 18 residues to C terminus | 101 | 50 | 50 | (98) | N | S | FI |
In this and other tables:
A%, antigen assay result as % of normal control
F%, functional assay result.
Two results indicate two types of assay were used.Nucleotide sequence numbering (28) makes no allowance for the highly polymorphic short tandem repeat region of intron 5 (29).
* Because of the repeat nature of the sequence the nucleotides affected cannot be unequivocally assigned.CpG mutation (CpG)- N no;Y yes.Single/multiple reports (S/M) - S single; M multiple, number of reports in brackets.Mutation type (Mut. type)- NM nonsense mutation; MM missense mutation; SS splice site mutation; FI frameshift insertion; FD frameshift deletion; ID inframe deletion; FD/FI deletion and insertion resulting in frameshift; ID/I deletion and insertion remaining in frame.
