Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8369 | 25330;25331;25332 | chr2:178717769;178717768;178717767 | chr2:179582496;179582495;179582494 |
| N2AB | 8052 | 24379;24380;24381 | chr2:178717769;178717768;178717767 | chr2:179582496;179582495;179582494 |
| N2A | 7125 | 21598;21599;21600 | chr2:178717769;178717768;178717767 | chr2:179582496;179582495;179582494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs755722481  |
None | 0.97 | N | 0.376 | 0.518 | 0.867213745552 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| V/F | rs755722481 |
None | 0.97 | N | 0.376 | 0.518 | 0.867213745552 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs755722481 |
None | 0.97 | N | 0.376 | 0.518 | 0.867213745552 | gnomAD-4.0.0 | 1.05641E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44341E-05 | 0 | 0 |
| V/I | rs755722481 |
None | 0.002 | N | 0.104 | 0.164 | 0.534140917371 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs755722481 |
None | 0.002 | N | 0.104 | 0.164 | 0.534140917371 | gnomAD-4.0.0 | 6.83558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.49062E-06 | 0 | 1.6073E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2396 | likely_benign | 0.2424 | benign | -1.846 | Destabilizing | 0.45 | N | 0.315 | neutral | N | 0.507646599 | None | None | N |
| V/C | 0.7928 | likely_pathogenic | 0.8054 | pathogenic | -1.11 | Destabilizing | 0.019 | N | 0.271 | neutral | None | None | None | None | N |
| V/D | 0.4979 | ambiguous | 0.5489 | ambiguous | -2.235 | Highly Destabilizing | 0.945 | D | 0.463 | neutral | N | 0.507162216 | None | None | N |
| V/E | 0.3597 | ambiguous | 0.3866 | ambiguous | -2.095 | Highly Destabilizing | 0.344 | N | 0.431 | neutral | None | None | None | None | N |
| V/F | 0.1784 | likely_benign | 0.1864 | benign | -1.204 | Destabilizing | 0.97 | D | 0.376 | neutral | N | 0.512896208 | None | None | N |
| V/G | 0.309 | likely_benign | 0.3362 | benign | -2.306 | Highly Destabilizing | 0.93 | D | 0.45 | neutral | N | 0.513149697 | None | None | N |
| V/H | 0.5665 | likely_pathogenic | 0.5966 | pathogenic | -2.048 | Highly Destabilizing | 0.989 | D | 0.427 | neutral | None | None | None | None | N |
| V/I | 0.0691 | likely_benign | 0.0655 | benign | -0.604 | Destabilizing | 0.002 | N | 0.104 | neutral | N | 0.467357414 | None | None | N |
| V/K | 0.3355 | likely_benign | 0.3528 | ambiguous | -1.595 | Destabilizing | 0.533 | D | 0.408 | neutral | None | None | None | None | N |
| V/L | 0.201 | likely_benign | 0.1892 | benign | -0.604 | Destabilizing | 0.053 | N | 0.313 | neutral | N | 0.501219271 | None | None | N |
| V/M | 0.1335 | likely_benign | 0.1269 | benign | -0.4 | Destabilizing | 0.924 | D | 0.373 | neutral | None | None | None | None | N |
| V/N | 0.3346 | likely_benign | 0.3535 | ambiguous | -1.65 | Destabilizing | 0.707 | D | 0.456 | neutral | None | None | None | None | N |
| V/P | 0.9197 | likely_pathogenic | 0.9411 | pathogenic | -0.988 | Destabilizing | 0.001 | N | 0.331 | neutral | None | None | None | None | N |
| V/Q | 0.3062 | likely_benign | 0.3269 | benign | -1.624 | Destabilizing | 0.127 | N | 0.331 | neutral | None | None | None | None | N |
| V/R | 0.2744 | likely_benign | 0.3059 | benign | -1.282 | Destabilizing | 0.945 | D | 0.461 | neutral | None | None | None | None | N |
| V/S | 0.2739 | likely_benign | 0.2935 | benign | -2.197 | Highly Destabilizing | 0.724 | D | 0.417 | neutral | None | None | None | None | N |
| V/T | 0.2052 | likely_benign | 0.2094 | benign | -1.933 | Destabilizing | 0.514 | D | 0.299 | neutral | None | None | None | None | N |
| V/W | 0.8085 | likely_pathogenic | 0.8304 | pathogenic | -1.676 | Destabilizing | 0.999 | D | 0.505 | neutral | None | None | None | None | N |
| V/Y | 0.5517 | ambiguous | 0.5736 | pathogenic | -1.288 | Destabilizing | 0.972 | D | 0.377 | 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.