Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2536 | 7831;7832;7833 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| N2AB | 2536 | 7831;7832;7833 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| N2A | 2536 | 7831;7832;7833 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| N2B | 2490 | 7693;7694;7695 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| Novex-1 | 2490 | 7693;7694;7695 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| Novex-2 | 2490 | 7693;7694;7695 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
| Novex-3 | 2536 | 7831;7832;7833 | chr2:178773358;178773357;178773356 | chr2:179638085;179638084;179638083 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.942 | D | 0.481 | 0.232 | 0.466991082792 | gnomAD-4.0.0 | 6.84141E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 0 | 0 |
| I/S | None | None | 0.942 | N | 0.569 | 0.342 | 0.67300728461 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | I | None | 5.65419E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4293 | ambiguous | 0.3724 | ambiguous | -0.988 | Destabilizing | 0.754 | D | 0.465 | neutral | None | None | None | None | I |
| I/C | 0.7489 | likely_pathogenic | 0.7199 | pathogenic | -0.787 | Destabilizing | 0.994 | D | 0.55 | neutral | None | None | None | None | I |
| I/D | 0.6952 | likely_pathogenic | 0.6477 | pathogenic | -0.26 | Destabilizing | 0.993 | D | 0.657 | neutral | None | None | None | None | I |
| I/E | 0.4623 | ambiguous | 0.4329 | ambiguous | -0.307 | Destabilizing | 0.978 | D | 0.665 | neutral | None | None | None | None | I |
| I/F | 0.2178 | likely_benign | 0.203 | benign | -0.658 | Destabilizing | 0.942 | D | 0.486 | neutral | D | 0.547671699 | None | None | I |
| I/G | 0.6945 | likely_pathogenic | 0.6401 | pathogenic | -1.223 | Destabilizing | 0.978 | D | 0.655 | neutral | None | None | None | None | I |
| I/H | 0.4772 | ambiguous | 0.4459 | ambiguous | -0.307 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | I |
| I/K | 0.3147 | likely_benign | 0.2844 | benign | -0.626 | Destabilizing | 0.978 | D | 0.664 | neutral | None | None | None | None | I |
| I/L | 0.1136 | likely_benign | 0.1156 | benign | -0.463 | Destabilizing | 0.294 | N | 0.296 | neutral | N | 0.447701129 | None | None | I |
| I/M | 0.1307 | likely_benign | 0.123 | benign | -0.475 | Destabilizing | 0.942 | D | 0.481 | neutral | D | 0.547671699 | None | None | I |
| I/N | 0.2579 | likely_benign | 0.2305 | benign | -0.497 | Destabilizing | 0.99 | D | 0.668 | neutral | D | 0.547851958 | None | None | I |
| I/P | 0.8848 | likely_pathogenic | 0.8606 | pathogenic | -0.605 | Destabilizing | 0.993 | D | 0.665 | neutral | None | None | None | None | I |
| I/Q | 0.3714 | ambiguous | 0.3393 | benign | -0.691 | Destabilizing | 0.993 | D | 0.663 | neutral | None | None | None | None | I |
| I/R | 0.2782 | likely_benign | 0.2493 | benign | -0.023 | Destabilizing | 0.978 | D | 0.665 | neutral | None | None | None | None | I |
| I/S | 0.3206 | likely_benign | 0.2769 | benign | -1.059 | Destabilizing | 0.942 | D | 0.569 | neutral | N | 0.45427382 | None | None | I |
| I/T | 0.2022 | likely_benign | 0.1712 | benign | -0.994 | Destabilizing | 0.822 | D | 0.501 | neutral | N | 0.441698189 | None | None | I |
| I/V | 0.0913 | likely_benign | 0.0863 | benign | -0.605 | Destabilizing | 0.006 | N | 0.172 | neutral | N | 0.438551445 | None | None | I |
| I/W | 0.8122 | likely_pathogenic | 0.7946 | pathogenic | -0.663 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | I |
| I/Y | 0.5412 | ambiguous | 0.5223 | ambiguous | -0.444 | Destabilizing | 0.978 | D | 0.544 | neutral | None | None | 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.