Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26741 | 80446;80447;80448 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| N2AB | 25100 | 75523;75524;75525 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| N2A | 24173 | 72742;72743;72744 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| N2B | 17676 | 53251;53252;53253 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| Novex-1 | 17801 | 53626;53627;53628 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| Novex-2 | 17868 | 53827;53828;53829 | chr2:178565911;178565910;178565909 | chr2:179430638;179430637;179430636 |
| 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 | rs750048032  |
-0.557 | 0.745 | N | 0.525 | 0.373 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/G | rs750048032 |
-0.557 | 0.745 | N | 0.525 | 0.373 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs750048032 |
-0.557 | 0.745 | N | 0.525 | 0.373 | None | gnomAD-4.0.0 | 1.54935E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.1192E-05 | 0 | 0 |
| S/N | None | None | 0.001 | N | 0.411 | 0.131 | 0.177238962908 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0956 | likely_benign | 0.091 | benign | -0.231 | Destabilizing | 0.113 | N | 0.544 | neutral | None | None | None | None | N |
| S/C | 0.1399 | likely_benign | 0.1273 | benign | 0.156 | Stabilizing | 0.996 | D | 0.723 | prob.delet. | N | 0.501810985 | None | None | N |
| S/D | 0.7706 | likely_pathogenic | 0.6918 | pathogenic | -0.518 | Destabilizing | 0.676 | D | 0.591 | neutral | None | None | None | None | N |
| S/E | 0.7994 | likely_pathogenic | 0.7513 | pathogenic | -0.334 | Destabilizing | 0.854 | D | 0.6 | neutral | None | None | None | None | N |
| S/F | 0.2666 | likely_benign | 0.2385 | benign | -0.287 | Destabilizing | 0.997 | D | 0.758 | deleterious | None | None | None | None | N |
| S/G | 0.146 | likely_benign | 0.1347 | benign | -0.6 | Destabilizing | 0.745 | D | 0.525 | neutral | N | 0.509760249 | None | None | N |
| S/H | 0.5053 | ambiguous | 0.4417 | ambiguous | -0.862 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/I | 0.2365 | likely_benign | 0.2023 | benign | 0.697 | Stabilizing | 0.988 | D | 0.743 | deleterious | N | 0.495125488 | None | None | N |
| S/K | 0.9047 | likely_pathogenic | 0.8543 | pathogenic | 0.452 | Stabilizing | 0.886 | D | 0.605 | neutral | None | None | None | None | N |
| S/L | 0.1438 | likely_benign | 0.1369 | benign | 0.697 | Stabilizing | 0.982 | D | 0.71 | prob.delet. | None | None | None | None | N |
| S/M | 0.1978 | likely_benign | 0.1846 | benign | 0.45 | Stabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/N | 0.2308 | likely_benign | 0.1805 | benign | -0.213 | Destabilizing | 0.001 | N | 0.411 | neutral | N | 0.515540071 | None | None | N |
| S/P | 0.923 | likely_pathogenic | 0.9245 | pathogenic | 0.422 | Stabilizing | 0.967 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/Q | 0.6598 | likely_pathogenic | 0.6089 | pathogenic | 0.032 | Stabilizing | 0.982 | D | 0.712 | prob.delet. | None | None | None | None | N |
| S/R | 0.8661 | likely_pathogenic | 0.8003 | pathogenic | 0.059 | Stabilizing | 0.976 | D | 0.709 | prob.delet. | N | 0.475384937 | None | None | N |
| S/T | 0.0803 | likely_benign | 0.0771 | benign | 0.051 | Stabilizing | 0.269 | N | 0.503 | neutral | N | 0.47386402 | None | None | N |
| S/V | 0.1999 | likely_benign | 0.1802 | benign | 0.422 | Stabilizing | 0.976 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/W | 0.5481 | ambiguous | 0.5139 | ambiguous | -0.605 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| S/Y | 0.2772 | likely_benign | 0.2457 | benign | -0.044 | Destabilizing | 0.997 | D | 0.761 | deleterious | 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.