Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7202 | 21829;21830;21831 | chr2:178723496;178723495;178723494 | chr2:179588223;179588222;179588221 |
| N2AB | 6885 | 20878;20879;20880 | chr2:178723496;178723495;178723494 | chr2:179588223;179588222;179588221 |
| N2A | 5958 | 18097;18098;18099 | chr2:178723496;178723495;178723494 | chr2:179588223;179588222;179588221 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | rs747376234  |
-0.026 | 0.921 | N | 0.313 | 0.252 | 0.358744678677 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.24165E-04 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs747376234 |
-0.026 | 0.921 | N | 0.313 | 0.252 | 0.358744678677 | gnomAD-4.0.0 | 7.96257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.38935E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 0.002 | N | 0.226 | 0.142 | 0.141422826196 | gnomAD-4.0.0 | 3.18488E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71942E-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 | 0.0787 | likely_benign | 0.0835 | benign | -0.312 | Destabilizing | 0.003 | N | 0.099 | neutral | N | 0.512448546 | None | None | I |
| S/C | 0.1374 | likely_benign | 0.1589 | benign | -0.285 | Destabilizing | 0.921 | D | 0.313 | neutral | N | 0.513237791 | None | None | I |
| S/D | 0.2345 | likely_benign | 0.2534 | benign | 0.201 | Stabilizing | 0.418 | N | 0.163 | neutral | None | None | None | None | I |
| S/E | 0.3107 | likely_benign | 0.3259 | benign | 0.095 | Stabilizing | 0.418 | N | 0.161 | neutral | None | None | None | None | I |
| S/F | 0.1265 | likely_benign | 0.1406 | benign | -1.02 | Destabilizing | 0.655 | D | 0.399 | neutral | N | 0.494880046 | None | None | I |
| S/G | 0.097 | likely_benign | 0.1066 | benign | -0.38 | Destabilizing | 0.001 | N | 0.101 | neutral | None | None | None | None | I |
| S/H | 0.23 | likely_benign | 0.2489 | benign | -0.819 | Destabilizing | 0.94 | D | 0.312 | neutral | None | None | None | None | I |
| S/I | 0.1446 | likely_benign | 0.1572 | benign | -0.268 | Destabilizing | 0.002 | N | 0.229 | neutral | None | None | None | None | I |
| S/K | 0.431 | ambiguous | 0.4538 | ambiguous | -0.352 | Destabilizing | 0.418 | N | 0.157 | neutral | None | None | None | None | I |
| S/L | 0.0846 | likely_benign | 0.0873 | benign | -0.268 | Destabilizing | 0.001 | N | 0.192 | neutral | None | None | None | None | I |
| S/M | 0.1755 | likely_benign | 0.1868 | benign | -0.059 | Destabilizing | 0.716 | D | 0.319 | neutral | None | None | None | None | I |
| S/N | 0.1273 | likely_benign | 0.1349 | benign | -0.116 | Destabilizing | 0.418 | N | 0.261 | neutral | None | None | None | None | I |
| S/P | 0.1421 | likely_benign | 0.1566 | benign | -0.257 | Destabilizing | 0.002 | N | 0.226 | neutral | N | 0.494626557 | None | None | I |
| S/Q | 0.3323 | likely_benign | 0.3607 | ambiguous | -0.359 | Destabilizing | 0.836 | D | 0.265 | neutral | None | None | None | None | I |
| S/R | 0.3488 | ambiguous | 0.3725 | ambiguous | -0.14 | Destabilizing | 0.836 | D | 0.388 | neutral | None | None | None | None | I |
| S/T | 0.0823 | likely_benign | 0.084 | benign | -0.241 | Destabilizing | 0.183 | N | 0.195 | neutral | N | 0.505522573 | None | None | I |
| S/V | 0.1527 | likely_benign | 0.1714 | benign | -0.257 | Destabilizing | 0.002 | N | 0.208 | neutral | None | None | None | None | I |
| S/W | 0.202 | likely_benign | 0.2206 | benign | -1.052 | Destabilizing | 0.983 | D | 0.348 | neutral | None | None | None | None | I |
| S/Y | 0.1314 | likely_benign | 0.1418 | benign | -0.753 | Destabilizing | 0.794 | D | 0.341 | neutral | N | 0.486486255 | None | None | I |
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.