Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9933 | 30022;30023;30024 | chr2:178704675;178704674;178704673 | chr2:179569402;179569401;179569400 |
| N2AB | 9616 | 29071;29072;29073 | chr2:178704675;178704674;178704673 | chr2:179569402;179569401;179569400 |
| N2A | 8689 | 26290;26291;26292 | chr2:178704675;178704674;178704673 | chr2:179569402;179569401;179569400 |
| 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/L | rs764352461  |
0.601 | 1.0 | None | 0.715 | 0.494 | 0.673560067753 | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 4.18E-05 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 7.95E-06 | 0 |
| S/L | rs764352461 |
0.601 | 1.0 | None | 0.715 | 0.494 | 0.673560067753 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44872E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs764352461 |
0.601 | 1.0 | None | 0.715 | 0.494 | 0.673560067753 | gnomAD-4.0.0 | 1.1789E-05 | None | None | None | None | N | None | 1.20179E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63433E-06 | 1.10047E-05 | 0 |
| S/P | rs1186600028 |
None | 1.0 | None | 0.786 | 0.594 | 0.494366844524 | gnomAD-4.0.0 | 1.59584E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86528E-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 | 0.239 | likely_benign | 0.2214 | benign | -0.562 | Destabilizing | 0.997 | D | 0.491 | neutral | None | None | None | None | N |
| S/C | 0.4691 | ambiguous | 0.4315 | ambiguous | -0.245 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| S/D | 0.9294 | likely_pathogenic | 0.9011 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| S/E | 0.9336 | likely_pathogenic | 0.904 | pathogenic | -0.264 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| S/F | 0.7701 | likely_pathogenic | 0.7252 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| S/G | 0.4948 | ambiguous | 0.4655 | ambiguous | -0.902 | Destabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | N |
| S/H | 0.7871 | likely_pathogenic | 0.77 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| S/I | 0.7034 | likely_pathogenic | 0.6498 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| S/K | 0.9757 | likely_pathogenic | 0.9703 | pathogenic | -0.278 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| S/L | 0.5 | ambiguous | 0.4604 | ambiguous | 0.266 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/M | 0.6216 | likely_pathogenic | 0.5935 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/N | 0.5985 | likely_pathogenic | 0.554 | ambiguous | -0.607 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| S/P | 0.9884 | likely_pathogenic | 0.9873 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/Q | 0.8613 | likely_pathogenic | 0.8448 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/R | 0.9604 | likely_pathogenic | 0.9495 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/T | 0.2797 | likely_benign | 0.2601 | benign | -0.466 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| S/V | 0.6805 | likely_pathogenic | 0.6448 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| S/W | 0.8658 | likely_pathogenic | 0.8368 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/Y | 0.7041 | likely_pathogenic | 0.6586 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.809 | 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.