Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31352 | 94279;94280;94281 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| N2AB | 29711 | 89356;89357;89358 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| N2A | 28784 | 86575;86576;86577 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| N2B | 22287 | 67084;67085;67086 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| Novex-1 | 22412 | 67459;67460;67461 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| Novex-2 | 22479 | 67660;67661;67662 | chr2:178547572;178547571;178547570 | chr2:179412299;179412298;179412297 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs769645414  |
-0.212 | 1.0 | N | 0.519 | 0.381 | 0.355865052028 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 1.65728E-04 |
| G/A | rs769645414 |
-0.212 | 1.0 | N | 0.519 | 0.381 | 0.355865052028 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 8.99442E-07 | 0 | 0 |
| G/D | rs769645414 |
None | 1.0 | N | 0.514 | 0.46 | 0.369682402691 | 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 |
| G/D | rs769645414 |
None | 1.0 | N | 0.514 | 0.46 | 0.369682402691 | gnomAD-4.0.0 | 1.23944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69519E-06 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.669 | 0.471 | 0.593515057505 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99442E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2092 | likely_benign | 0.2479 | benign | -0.369 | Destabilizing | 1.0 | D | 0.519 | neutral | N | 0.500994693 | None | None | N |
| G/C | 0.3955 | ambiguous | 0.4435 | ambiguous | -1.06 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.493226157 | None | None | N |
| G/D | 0.5347 | ambiguous | 0.6032 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.514 | neutral | N | 0.480885993 | None | None | N |
| G/E | 0.5328 | ambiguous | 0.6162 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| G/F | 0.8299 | likely_pathogenic | 0.864 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/H | 0.6477 | likely_pathogenic | 0.689 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| G/I | 0.6312 | likely_pathogenic | 0.6887 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/K | 0.6886 | likely_pathogenic | 0.7481 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| G/L | 0.6747 | likely_pathogenic | 0.7277 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/M | 0.7087 | likely_pathogenic | 0.7604 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| G/N | 0.426 | ambiguous | 0.4865 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.524 | neutral | None | None | None | None | N |
| G/P | 0.9391 | likely_pathogenic | 0.9505 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/Q | 0.5443 | ambiguous | 0.597 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/R | 0.5153 | ambiguous | 0.5736 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.487198677 | None | None | N |
| G/S | 0.1354 | likely_benign | 0.157 | benign | -0.634 | Destabilizing | 1.0 | D | 0.548 | neutral | N | 0.447794926 | None | None | N |
| G/T | 0.2852 | likely_benign | 0.337 | benign | -0.713 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| G/V | 0.4608 | ambiguous | 0.5269 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.506651229 | None | None | N |
| G/W | 0.7419 | likely_pathogenic | 0.7659 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/Y | 0.7597 | likely_pathogenic | 0.7919 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.667 | 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.