Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29508 | 88747;88748;88749 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| N2AB | 27867 | 83824;83825;83826 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| N2A | 26940 | 81043;81044;81045 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| N2B | 20443 | 61552;61553;61554 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| Novex-1 | 20568 | 61927;61928;61929 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| Novex-2 | 20635 | 62128;62129;62130 | chr2:178554937;178554936;178554935 | chr2:179419664;179419663;179419662 |
| 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/N | rs1314571330  |
-0.367 | 0.989 | N | 0.535 | 0.29 | 0.301455362545 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 2.03004E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/N | rs1314571330 |
-0.367 | 0.989 | N | 0.535 | 0.29 | 0.301455362545 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 3.27397E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1314571330 |
-0.367 | 0.989 | N | 0.535 | 0.29 | 0.301455362545 | gnomAD-4.0.0 | 1.73511E-05 | None | None | None | None | N | None | 0 | 2.00027E-04 | None | 0 | 2.23105E-05 | None | 0 | 0 | 1.10184E-05 | 0 | 3.20215E-05 |
| S/T | None | None | 0.198 | N | 0.247 | 0.162 | 0.193865811164 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99433E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1325 | likely_benign | 0.1407 | benign | -0.884 | Destabilizing | 0.96 | D | 0.425 | neutral | None | None | None | None | N |
| S/C | 0.177 | likely_benign | 0.1937 | benign | -0.644 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.489714199 | None | None | N |
| S/D | 0.778 | likely_pathogenic | 0.7892 | pathogenic | -0.402 | Destabilizing | 0.992 | D | 0.522 | neutral | None | None | None | None | N |
| S/E | 0.8654 | likely_pathogenic | 0.8838 | pathogenic | -0.391 | Destabilizing | 0.992 | D | 0.535 | neutral | None | None | None | None | N |
| S/F | 0.6625 | likely_pathogenic | 0.721 | pathogenic | -1.084 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| S/G | 0.0979 | likely_benign | 0.0987 | benign | -1.134 | Destabilizing | 0.989 | D | 0.485 | neutral | N | 0.50447022 | None | None | N |
| S/H | 0.6545 | likely_pathogenic | 0.6874 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| S/I | 0.619 | likely_pathogenic | 0.6499 | pathogenic | -0.317 | Destabilizing | 0.994 | D | 0.756 | deleterious | N | 0.490913931 | None | None | N |
| S/K | 0.8721 | likely_pathogenic | 0.8838 | pathogenic | -0.714 | Destabilizing | 0.983 | D | 0.529 | neutral | None | None | None | None | N |
| S/L | 0.3013 | likely_benign | 0.3324 | benign | -0.317 | Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | N |
| S/M | 0.4454 | ambiguous | 0.4677 | ambiguous | 0.003 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/N | 0.3544 | ambiguous | 0.3735 | ambiguous | -0.752 | Destabilizing | 0.989 | D | 0.535 | neutral | N | 0.496483338 | None | None | N |
| S/P | 0.9203 | likely_pathogenic | 0.9411 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| S/Q | 0.7693 | likely_pathogenic | 0.7919 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| S/R | 0.7792 | likely_pathogenic | 0.8027 | pathogenic | -0.612 | Destabilizing | 0.997 | D | 0.757 | deleterious | D | 0.532040824 | None | None | N |
| S/T | 0.0983 | likely_benign | 0.0968 | benign | -0.776 | Destabilizing | 0.198 | N | 0.247 | neutral | N | 0.500179122 | None | None | N |
| S/V | 0.5736 | likely_pathogenic | 0.5929 | pathogenic | -0.473 | Destabilizing | 0.983 | D | 0.627 | neutral | None | None | None | None | N |
| S/W | 0.7454 | likely_pathogenic | 0.7952 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| S/Y | 0.5566 | ambiguous | 0.6373 | pathogenic | -0.773 | Destabilizing | 0.999 | D | 0.787 | deleterious | 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.