Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14552 | 43879;43880;43881 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| N2AB | 12911 | 38956;38957;38958 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| N2A | 11984 | 36175;36176;36177 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| N2B | 5487 | 16684;16685;16686 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| Novex-1 | 5612 | 17059;17060;17061 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| Novex-2 | 5679 | 17260;17261;17262 | chr2:178632240;178632239;178632238 | chr2:179496967;179496966;179496965 |
| 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/A | None | None | 0.01 | N | 0.235 | 0.13 | 0.252162846088 | gnomAD-4.0.0 | 6.86782E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01622E-07 | 0 | 0 |
| S/L | rs1454698596  |
None | 0.676 | N | 0.525 | 0.255 | 0.404733080969 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs1454698596 |
None | 0.676 | N | 0.525 | 0.255 | 0.404733080969 | gnomAD-4.0.0 | 3.73242E-06 | None | None | None | None | N | None | 2.67516E-05 | 0 | None | 3.40391E-05 | 0 | None | 0 | 0 | 1.69959E-06 | 0 | 1.60684E-05 |
| S/P | None | None | 0.784 | N | 0.604 | 0.367 | 0.408714661073 | gnomAD-4.0.0 | 1.37356E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80324E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1015 | likely_benign | 0.088 | benign | -0.627 | Destabilizing | 0.01 | N | 0.235 | neutral | N | 0.504953121 | None | None | N |
| S/C | 0.1202 | likely_benign | 0.1278 | benign | -0.469 | Destabilizing | 0.981 | D | 0.596 | neutral | None | None | None | None | N |
| S/D | 0.5809 | likely_pathogenic | 0.5274 | ambiguous | -1.361 | Destabilizing | 0.704 | D | 0.559 | neutral | None | None | None | None | N |
| S/E | 0.51 | ambiguous | 0.4803 | ambiguous | -1.182 | Destabilizing | 0.704 | D | 0.541 | neutral | None | None | None | None | N |
| S/F | 0.2256 | likely_benign | 0.1877 | benign | -0.486 | Destabilizing | 0.893 | D | 0.583 | neutral | None | None | None | None | N |
| S/G | 0.1566 | likely_benign | 0.1398 | benign | -1.023 | Destabilizing | 0.495 | N | 0.479 | neutral | None | None | None | None | N |
| S/H | 0.3018 | likely_benign | 0.2973 | benign | -1.503 | Destabilizing | 0.981 | D | 0.595 | neutral | None | None | None | None | N |
| S/I | 0.1864 | likely_benign | 0.1558 | benign | 0.369 | Stabilizing | 0.543 | D | 0.554 | neutral | None | None | None | None | N |
| S/K | 0.5348 | ambiguous | 0.4871 | ambiguous | -0.241 | Destabilizing | 0.704 | D | 0.537 | neutral | None | None | None | None | N |
| S/L | 0.1312 | likely_benign | 0.1183 | benign | 0.369 | Stabilizing | 0.676 | D | 0.525 | neutral | N | 0.515127401 | None | None | N |
| S/M | 0.2375 | likely_benign | 0.2282 | benign | 0.3 | Stabilizing | 0.176 | N | 0.451 | neutral | None | None | None | None | N |
| S/N | 0.2141 | likely_benign | 0.1804 | benign | -0.906 | Destabilizing | 0.704 | D | 0.578 | neutral | None | None | None | None | N |
| S/P | 0.958 | likely_pathogenic | 0.9637 | pathogenic | 0.073 | Stabilizing | 0.784 | D | 0.604 | neutral | N | 0.516805501 | None | None | N |
| S/Q | 0.4675 | ambiguous | 0.4388 | ambiguous | -0.668 | Destabilizing | 0.944 | D | 0.602 | neutral | None | None | None | None | N |
| S/R | 0.4042 | ambiguous | 0.3459 | ambiguous | -0.646 | Destabilizing | 0.893 | D | 0.603 | neutral | None | None | None | None | N |
| S/T | 0.089 | likely_benign | 0.081 | benign | -0.543 | Destabilizing | 0.003 | N | 0.211 | neutral | N | 0.379970738 | None | None | N |
| S/V | 0.2317 | likely_benign | 0.1959 | benign | 0.073 | Stabilizing | 0.031 | N | 0.461 | neutral | None | None | None | None | N |
| S/W | 0.347 | ambiguous | 0.3489 | ambiguous | -0.792 | Destabilizing | 0.997 | D | 0.652 | neutral | N | 0.517840783 | None | None | N |
| S/Y | 0.1773 | likely_benign | 0.1628 | benign | -0.321 | Destabilizing | 0.981 | D | 0.589 | 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.