Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18842 | 56749;56750;56751 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| N2AB | 17201 | 51826;51827;51828 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| N2A | 16274 | 49045;49046;49047 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| N2B | 9777 | 29554;29555;29556 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| Novex-1 | 9902 | 29929;29930;29931 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| Novex-2 | 9969 | 30130;30131;30132 | chr2:178599269;178599268;178599267 | chr2:179463996;179463995;179463994 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | N | 0.783 | 0.498 | 0.760305313083 | gnomAD-4.0.0 | 6.9777E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07079E-07 | 0 | 0 |
| C/R | rs371437953  |
-0.69 | 1.0 | N | 0.836 | 0.516 | None | gnomAD-2.1.1 | 8.95E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.91E-05 | 0 |
| C/R | rs371437953 |
-0.69 | 1.0 | N | 0.836 | 0.516 | None | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs371437953 |
-0.69 | 1.0 | N | 0.836 | 0.516 | None | gnomAD-4.0.0 | 1.893E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.56334E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.816 | 0.443 | 0.659526208185 | gnomAD-4.0.0 | 6.97818E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0708E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3996 | ambiguous | 0.368 | ambiguous | -1.779 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | N |
| C/D | 0.7066 | likely_pathogenic | 0.6447 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/E | 0.7098 | likely_pathogenic | 0.6512 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/F | 0.3352 | likely_benign | 0.3121 | benign | -1.118 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.494868436 | None | None | N |
| C/G | 0.1854 | likely_benign | 0.1482 | benign | -2.115 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.514070273 | None | None | N |
| C/H | 0.4774 | ambiguous | 0.4175 | ambiguous | -2.002 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| C/I | 0.6027 | likely_pathogenic | 0.5641 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| C/K | 0.5544 | ambiguous | 0.4782 | ambiguous | -0.949 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/L | 0.3642 | ambiguous | 0.3622 | ambiguous | -0.889 | Destabilizing | 0.999 | D | 0.523 | neutral | None | None | None | None | N |
| C/M | 0.5455 | ambiguous | 0.5158 | ambiguous | 0.234 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| C/N | 0.3538 | ambiguous | 0.3101 | benign | -1.265 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/P | 0.5506 | ambiguous | 0.5195 | ambiguous | -1.162 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/Q | 0.4378 | ambiguous | 0.3796 | ambiguous | -0.99 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/R | 0.2533 | likely_benign | 0.2133 | benign | -0.97 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.418407808 | None | None | N |
| C/S | 0.3535 | ambiguous | 0.3201 | benign | -1.749 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.474146448 | None | None | N |
| C/T | 0.3481 | ambiguous | 0.3216 | benign | -1.391 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| C/V | 0.4898 | ambiguous | 0.464 | ambiguous | -1.162 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| C/W | 0.6201 | likely_pathogenic | 0.5855 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.479136557 | None | None | N |
| C/Y | 0.3065 | likely_benign | 0.2981 | benign | -1.156 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.507354944 | 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.