Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18217 | 54874;54875;54876 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| N2AB | 16576 | 49951;49952;49953 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| N2A | 15649 | 47170;47171;47172 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| N2B | 9152 | 27679;27680;27681 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| Novex-1 | 9277 | 28054;28055;28056 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| Novex-2 | 9344 | 28255;28256;28257 | chr2:178604038;178604037;178604036 | chr2:179468765;179468764;179468763 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs201001270  |
-1.152 | 0.454 | N | 0.367 | 0.221 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.26E-05 | 0 |
| S/G | rs201001270 |
-1.152 | 0.454 | N | 0.367 | 0.221 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| S/G | rs201001270 |
-1.152 | 0.454 | N | 0.367 | 0.221 | None | gnomAD-4.0.0 | 6.51028E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.64973E-05 | 0 | 4.80646E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3146 | likely_benign | 0.3117 | benign | -0.501 | Destabilizing | 0.688 | D | 0.395 | neutral | None | None | None | None | N |
| S/C | 0.2123 | likely_benign | 0.2086 | benign | -0.218 | Destabilizing | 0.997 | D | 0.517 | neutral | N | 0.504592359 | None | None | N |
| S/D | 0.9107 | likely_pathogenic | 0.8975 | pathogenic | 0.107 | Stabilizing | 0.525 | D | 0.469 | neutral | None | None | None | None | N |
| S/E | 0.9671 | likely_pathogenic | 0.9657 | pathogenic | 0.207 | Stabilizing | 0.688 | D | 0.493 | neutral | None | None | None | None | N |
| S/F | 0.879 | likely_pathogenic | 0.8668 | pathogenic | -0.617 | Destabilizing | 0.991 | D | 0.589 | neutral | None | None | None | None | N |
| S/G | 0.2357 | likely_benign | 0.1927 | benign | -0.809 | Destabilizing | 0.454 | N | 0.367 | neutral | N | 0.451720666 | None | None | N |
| S/H | 0.8359 | likely_pathogenic | 0.8253 | pathogenic | -1.038 | Destabilizing | 0.974 | D | 0.563 | neutral | None | None | None | None | N |
| S/I | 0.7696 | likely_pathogenic | 0.6629 | pathogenic | 0.236 | Stabilizing | 0.966 | D | 0.559 | neutral | N | 0.476634966 | None | None | N |
| S/K | 0.9907 | likely_pathogenic | 0.9909 | pathogenic | 0.023 | Stabilizing | 0.688 | D | 0.484 | neutral | None | None | None | None | N |
| S/L | 0.5777 | likely_pathogenic | 0.4957 | ambiguous | 0.236 | Stabilizing | 0.915 | D | 0.483 | neutral | None | None | None | None | N |
| S/M | 0.6959 | likely_pathogenic | 0.619 | pathogenic | 0.057 | Stabilizing | 0.991 | D | 0.528 | neutral | None | None | None | None | N |
| S/N | 0.3008 | likely_benign | 0.1797 | benign | -0.269 | Destabilizing | 0.002 | N | 0.209 | neutral | N | 0.364464254 | None | None | N |
| S/P | 0.9618 | likely_pathogenic | 0.9416 | pathogenic | 0.024 | Stabilizing | 0.991 | D | 0.524 | neutral | None | None | None | None | N |
| S/Q | 0.9279 | likely_pathogenic | 0.9288 | pathogenic | -0.162 | Destabilizing | 0.915 | D | 0.505 | neutral | None | None | None | None | N |
| S/R | 0.9854 | likely_pathogenic | 0.985 | pathogenic | -0.153 | Destabilizing | 0.801 | D | 0.484 | neutral | N | 0.484003656 | None | None | N |
| S/T | 0.1896 | likely_benign | 0.147 | benign | -0.203 | Destabilizing | 0.625 | D | 0.509 | neutral | N | 0.442058246 | None | None | N |
| S/V | 0.6942 | likely_pathogenic | 0.6187 | pathogenic | 0.024 | Stabilizing | 0.915 | D | 0.506 | neutral | None | None | None | None | N |
| S/W | 0.9042 | likely_pathogenic | 0.9028 | pathogenic | -0.745 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| S/Y | 0.8103 | likely_pathogenic | 0.8083 | pathogenic | -0.327 | Destabilizing | 0.991 | D | 0.575 | 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.