Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18678 | 56257;56258;56259 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| N2AB | 17037 | 51334;51335;51336 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| N2A | 16110 | 48553;48554;48555 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| N2B | 9613 | 29062;29063;29064 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| Novex-1 | 9738 | 29437;29438;29439 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| Novex-2 | 9805 | 29638;29639;29640 | chr2:178600872;178600871;178600870 | chr2:179465599;179465598;179465597 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | None | N | None | 0.098 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/N | rs2053232530  |
None | None | N | None | 0.265 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.079 | likely_benign | 0.0764 | benign | -0.649 | Destabilizing | None | None | None | None | D | 0.526471928 | None | None | N |
| T/C | 0.3006 | likely_benign | 0.2988 | benign | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.3331 | likely_benign | 0.2793 | benign | 0.288 | Stabilizing | 0.051 | N | 0.311 | neutral | None | None | None | None | N |
| T/E | 0.2087 | likely_benign | 0.1878 | benign | 0.284 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.1459 | likely_benign | 0.122 | benign | -0.782 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.2889 | likely_benign | 0.2577 | benign | -0.885 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.1873 | likely_benign | 0.1672 | benign | -1.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.0577 | likely_benign | 0.052 | benign | -0.123 | Destabilizing | None | None | None | None | N | 0.457534704 | None | None | N |
| T/K | 0.1215 | likely_benign | 0.1227 | benign | -0.47 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.0548 | likely_benign | 0.0552 | benign | -0.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.0655 | likely_benign | 0.0645 | benign | -0.041 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1102 | likely_benign | 0.0997 | benign | -0.43 | Destabilizing | None | None | None | None | N | 0.492522276 | None | None | N |
| T/P | 0.1167 | likely_benign | 0.1181 | benign | -0.266 | Destabilizing | None | None | None | None | N | 0.492015297 | None | None | N |
| T/Q | 0.1645 | likely_benign | 0.157 | benign | -0.558 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.1119 | likely_benign | 0.1099 | benign | -0.276 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1191 | likely_benign | 0.1121 | benign | -0.757 | Destabilizing | None | None | None | None | N | 0.487153452 | None | None | N |
| T/V | 0.061 | likely_benign | 0.0578 | benign | -0.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.4504 | ambiguous | 0.4095 | ambiguous | -0.716 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.2095 | likely_benign | 0.19 | benign | -0.461 | Destabilizing | None | None | None | None | 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.