Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14208 | 42847;42848;42849 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| N2AB | 12567 | 37924;37925;37926 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| N2A | 11640 | 35143;35144;35145 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| N2B | 5143 | 15652;15653;15654 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| Novex-1 | 5268 | 16027;16028;16029 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| Novex-2 | 5335 | 16228;16229;16230 | chr2:178633877;178633876;178633875 | chr2:179498604;179498603;179498602 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1391653235  |
-1.419 | 0.021 | N | 0.216 | 0.223 | 0.654688989383 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| I/T | rs1391653235 |
-1.419 | 0.021 | N | 0.216 | 0.223 | 0.654688989383 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| I/T | rs1391653235 |
-1.419 | 0.021 | N | 0.216 | 0.223 | 0.654688989383 | gnomAD-4.0.0 | 5.12602E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18246E-06 | 1.34023E-05 | 0 |
| I/V | rs1447217875 |
-1.209 | 0.675 | N | 0.303 | 0.204 | 0.53046153047 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | rs1447217875 |
-1.209 | 0.675 | N | 0.303 | 0.204 | 0.53046153047 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.41 | ambiguous | 0.3919 | ambiguous | -1.161 | Destabilizing | 0.863 | D | 0.425 | neutral | None | None | None | None | N |
| I/C | 0.8061 | likely_pathogenic | 0.7998 | pathogenic | -0.886 | Destabilizing | 0.999 | D | 0.485 | neutral | None | None | None | None | N |
| I/D | 0.688 | likely_pathogenic | 0.7433 | pathogenic | -0.22 | Destabilizing | 0.969 | D | 0.583 | neutral | None | None | None | None | N |
| I/E | 0.5646 | likely_pathogenic | 0.6283 | pathogenic | -0.256 | Destabilizing | 0.969 | D | 0.582 | neutral | None | None | None | None | N |
| I/F | 0.2735 | likely_benign | 0.2731 | benign | -0.856 | Destabilizing | 0.997 | D | 0.507 | neutral | None | None | None | None | N |
| I/G | 0.7446 | likely_pathogenic | 0.751 | pathogenic | -1.413 | Destabilizing | 0.969 | D | 0.559 | neutral | None | None | None | None | N |
| I/H | 0.6184 | likely_pathogenic | 0.6316 | pathogenic | -0.57 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| I/K | 0.3981 | ambiguous | 0.4352 | ambiguous | -0.663 | Destabilizing | 0.92 | D | 0.582 | neutral | N | 0.493783593 | None | None | N |
| I/L | 0.2125 | likely_benign | 0.2054 | benign | -0.582 | Destabilizing | 0.675 | D | 0.308 | neutral | N | 0.504760825 | None | None | N |
| I/M | 0.1743 | likely_benign | 0.1699 | benign | -0.534 | Destabilizing | 0.996 | D | 0.491 | neutral | N | 0.501767193 | None | None | N |
| I/N | 0.2756 | likely_benign | 0.2899 | benign | -0.517 | Destabilizing | 0.991 | D | 0.585 | neutral | None | None | None | None | N |
| I/P | 0.86 | likely_pathogenic | 0.8925 | pathogenic | -0.741 | Destabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| I/Q | 0.511 | ambiguous | 0.5461 | ambiguous | -0.694 | Destabilizing | 0.997 | D | 0.585 | neutral | None | None | None | None | N |
| I/R | 0.3438 | ambiguous | 0.3668 | ambiguous | -0.11 | Destabilizing | 0.988 | D | 0.598 | neutral | N | 0.49943991 | None | None | N |
| I/S | 0.319 | likely_benign | 0.3091 | benign | -1.135 | Destabilizing | 0.884 | D | 0.535 | neutral | None | None | None | None | N |
| I/T | 0.189 | likely_benign | 0.1822 | benign | -1.051 | Destabilizing | 0.021 | N | 0.216 | neutral | N | 0.404982287 | None | None | N |
| I/V | 0.1027 | likely_benign | 0.0974 | benign | -0.741 | Destabilizing | 0.675 | D | 0.303 | neutral | N | 0.483666945 | None | None | N |
| I/W | 0.902 | likely_pathogenic | 0.9193 | pathogenic | -0.858 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| I/Y | 0.6489 | likely_pathogenic | 0.6803 | pathogenic | -0.628 | Destabilizing | 0.997 | D | 0.525 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.