Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24317 | 73174;73175;73176 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| N2AB | 22676 | 68251;68252;68253 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| N2A | 21749 | 65470;65471;65472 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| N2B | 15252 | 45979;45980;45981 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| Novex-1 | 15377 | 46354;46355;46356 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| Novex-2 | 15444 | 46555;46556;46557 | chr2:178573183;178573182;178573181 | chr2:179437910;179437909;179437908 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.999 | N | 0.609 | 0.365 | 0.541829622886 | gnomAD-4.0.0 | 6.85655E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00885E-07 | 0 | 0 |
| A/T | rs770455724  |
-2.156 | 1.0 | N | 0.759 | 0.29 | 0.507152531357 | gnomAD-2.1.1 | 3.66E-05 | None | None | None | None | N | None | 0 | 2.04583E-04 | None | 0 | 0 | None | 0 | None | 4.7E-05 | 0 | 1.68805E-04 |
| A/T | rs770455724 |
-2.156 | 1.0 | N | 0.759 | 0.29 | 0.507152531357 | gnomAD-4.0.0 | 8.22786E-06 | None | None | None | None | N | None | 0 | 1.57226E-04 | None | 0 | 0 | None | 9.38685E-05 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.999 | N | 0.663 | 0.33 | 0.684433362957 | gnomAD-4.0.0 | 1.59725E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86865E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8029 | likely_pathogenic | 0.8055 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/D | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -3.044 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.525838086 | None | None | N |
| A/E | 0.9933 | likely_pathogenic | 0.9935 | pathogenic | -2.856 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/F | 0.9753 | likely_pathogenic | 0.9741 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/G | 0.5489 | ambiguous | 0.5504 | ambiguous | -1.915 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.514228291 | None | None | N |
| A/H | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/I | 0.8613 | likely_pathogenic | 0.8557 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/L | 0.8015 | likely_pathogenic | 0.8041 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/M | 0.8696 | likely_pathogenic | 0.8763 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/N | 0.9794 | likely_pathogenic | 0.9817 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/P | 0.8632 | likely_pathogenic | 0.8133 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.505011579 | None | None | N |
| A/Q | 0.987 | likely_pathogenic | 0.9885 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/R | 0.9917 | likely_pathogenic | 0.9928 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/S | 0.4205 | ambiguous | 0.4318 | ambiguous | -2.212 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.503997621 | None | None | N |
| A/T | 0.7566 | likely_pathogenic | 0.7363 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.492399426 | None | None | N |
| A/V | 0.6411 | likely_pathogenic | 0.6498 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.663 | prob.neutral | N | 0.497922676 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/Y | 0.99 | likely_pathogenic | 0.9902 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.861 | 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.