Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2157 | 6694;6695;6696 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| N2AB | 2157 | 6694;6695;6696 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| N2A | 2157 | 6694;6695;6696 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| N2B | 2111 | 6556;6557;6558 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| Novex-1 | 2111 | 6556;6557;6558 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| Novex-2 | 2111 | 6556;6557;6558 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
| Novex-3 | 2157 | 6694;6695;6696 | chr2:178775395;178775394;178775393 | chr2:179640122;179640121;179640120 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 0.996 | D | 0.678 | 0.462 | 0.53782465974 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.94099E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1217516150  |
-0.61 | 0.884 | N | 0.498 | 0.286 | 0.473853734676 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| A/V | rs1217516150 |
-0.61 | 0.884 | N | 0.498 | 0.286 | 0.473853734676 | gnomAD-4.0.0 | 9.57731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16908E-05 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8152 | likely_pathogenic | 0.7459 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/D | 0.9885 | likely_pathogenic | 0.981 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.54890265 | None | None | N |
| A/E | 0.9718 | likely_pathogenic | 0.9519 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/F | 0.8334 | likely_pathogenic | 0.7413 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/G | 0.6599 | likely_pathogenic | 0.6082 | pathogenic | -0.282 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.507676081 | None | None | N |
| A/H | 0.9524 | likely_pathogenic | 0.9234 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/I | 0.7878 | likely_pathogenic | 0.6213 | pathogenic | -0.371 | Destabilizing | 0.994 | D | 0.635 | neutral | None | None | None | None | N |
| A/K | 0.9859 | likely_pathogenic | 0.972 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| A/L | 0.7245 | likely_pathogenic | 0.6176 | pathogenic | -0.371 | Destabilizing | 0.994 | D | 0.578 | neutral | None | None | None | None | N |
| A/M | 0.7935 | likely_pathogenic | 0.6771 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/N | 0.9485 | likely_pathogenic | 0.9141 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/P | 0.9773 | likely_pathogenic | 0.9649 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.714658378 | None | None | N |
| A/Q | 0.9323 | likely_pathogenic | 0.8945 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/R | 0.9494 | likely_pathogenic | 0.9149 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/S | 0.3136 | likely_benign | 0.2684 | benign | -0.507 | Destabilizing | 0.998 | D | 0.654 | neutral | N | 0.513947109 | None | None | N |
| A/T | 0.5998 | likely_pathogenic | 0.4485 | ambiguous | -0.579 | Destabilizing | 0.996 | D | 0.678 | prob.neutral | D | 0.589871917 | None | None | N |
| A/V | 0.4605 | ambiguous | 0.2957 | benign | -0.302 | Destabilizing | 0.884 | D | 0.498 | neutral | N | 0.506765899 | None | None | N |
| A/W | 0.9809 | likely_pathogenic | 0.9686 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/Y | 0.9383 | likely_pathogenic | 0.8978 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.759 | 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.