Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23946 | 72061;72062;72063 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| N2AB | 22305 | 67138;67139;67140 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| N2A | 21378 | 64357;64358;64359 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| N2B | 14881 | 44866;44867;44868 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| Novex-1 | 15006 | 45241;45242;45243 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| Novex-2 | 15073 | 45442;45443;45444 | chr2:178574296;178574295;178574294 | chr2:179439023;179439022;179439021 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1709305155  |
None | 0.684 | N | 0.498 | 0.284 | 0.351830644314 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs1709305155 |
None | 0.684 | N | 0.498 | 0.284 | 0.351830644314 | gnomAD-4.0.0 | 1.2397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69546E-06 | 0 | 0 |
| A/G | rs1709305155 |
None | 0.472 | N | 0.435 | 0.238 | 0.239305524855 | gnomAD-4.0.0 | 1.36871E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05357E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs372001011 |
-0.841 | 0.004 | N | 0.149 | 0.106 | None | gnomAD-4.0.0 | 6.8436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 0 | 0 |
| A/V | None | None | 0.309 | N | 0.429 | 0.216 | 0.251116650651 | gnomAD-4.0.0 | 6.84357E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87329E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4372 | ambiguous | 0.4243 | ambiguous | -0.88 | Destabilizing | 0.996 | D | 0.459 | neutral | None | None | None | None | N |
| A/D | 0.16 | likely_benign | 0.1545 | benign | -1.598 | Destabilizing | 0.684 | D | 0.498 | neutral | N | 0.424299204 | None | None | N |
| A/E | 0.1465 | likely_benign | 0.1385 | benign | -1.593 | Destabilizing | 0.59 | D | 0.467 | neutral | None | None | None | None | N |
| A/F | 0.303 | likely_benign | 0.3292 | benign | -1.056 | Destabilizing | 0.953 | D | 0.575 | neutral | None | None | None | None | N |
| A/G | 0.1155 | likely_benign | 0.1214 | benign | -1.317 | Destabilizing | 0.472 | N | 0.435 | neutral | N | 0.478288405 | None | None | N |
| A/H | 0.3366 | likely_benign | 0.3252 | benign | -1.563 | Destabilizing | 0.953 | D | 0.563 | neutral | None | None | None | None | N |
| A/I | 0.1927 | likely_benign | 0.1985 | benign | -0.348 | Destabilizing | 0.742 | D | 0.507 | neutral | None | None | None | None | N |
| A/K | 0.2662 | likely_benign | 0.2471 | benign | -1.432 | Destabilizing | 0.59 | D | 0.452 | neutral | None | None | None | None | N |
| A/L | 0.1293 | likely_benign | 0.1318 | benign | -0.348 | Destabilizing | 0.373 | N | 0.449 | neutral | None | None | None | None | N |
| A/M | 0.1636 | likely_benign | 0.1671 | benign | -0.226 | Destabilizing | 0.953 | D | 0.512 | neutral | None | None | None | None | N |
| A/N | 0.1333 | likely_benign | 0.1324 | benign | -1.193 | Destabilizing | 0.742 | D | 0.522 | neutral | None | None | None | None | N |
| A/P | 0.2723 | likely_benign | 0.2761 | benign | -0.53 | Destabilizing | 0.815 | D | 0.525 | neutral | N | 0.490140194 | None | None | N |
| A/Q | 0.2033 | likely_benign | 0.187 | benign | -1.307 | Destabilizing | 0.037 | N | 0.256 | neutral | None | None | None | None | N |
| A/R | 0.2636 | likely_benign | 0.2483 | benign | -1.074 | Destabilizing | 0.59 | D | 0.489 | neutral | None | None | None | None | N |
| A/S | 0.0754 | likely_benign | 0.077 | benign | -1.507 | Destabilizing | 0.309 | N | 0.391 | neutral | N | 0.383412587 | None | None | N |
| A/T | 0.0661 | likely_benign | 0.0675 | benign | -1.406 | Destabilizing | 0.004 | N | 0.149 | neutral | N | 0.353764471 | None | None | N |
| A/V | 0.1103 | likely_benign | 0.1134 | benign | -0.53 | Destabilizing | 0.309 | N | 0.429 | neutral | N | 0.469764922 | None | None | N |
| A/W | 0.6778 | likely_pathogenic | 0.6699 | pathogenic | -1.496 | Destabilizing | 0.996 | D | 0.621 | neutral | None | None | None | None | N |
| A/Y | 0.3906 | ambiguous | 0.3938 | ambiguous | -1.069 | Destabilizing | 0.984 | 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.