Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14338 | 43237;43238;43239 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| N2AB | 12697 | 38314;38315;38316 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| N2A | 11770 | 35533;35534;35535 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| N2B | 5273 | 16042;16043;16044 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| Novex-1 | 5398 | 16417;16418;16419 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| Novex-2 | 5465 | 16618;16619;16620 | chr2:178633261;178633260;178633259 | chr2:179497988;179497987;179497986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs1277244282  |
-3.634 | 0.999 | D | 0.881 | 0.494 | 0.59007929581 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs1277244282 |
-3.634 | 0.999 | D | 0.881 | 0.494 | 0.59007929581 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 2.28728E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9921 | likely_pathogenic | 0.9878 | pathogenic | -2.498 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| F/C | 0.9708 | likely_pathogenic | 0.9523 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.643712546 | None | None | N |
| F/D | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.492 | Highly Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| F/E | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -3.255 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| F/G | 0.9966 | likely_pathogenic | 0.9946 | pathogenic | -2.95 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| F/H | 0.994 | likely_pathogenic | 0.991 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/I | 0.8501 | likely_pathogenic | 0.781 | pathogenic | -1.008 | Destabilizing | 0.999 | D | 0.667 | prob.neutral | D | 0.63084461 | None | None | N |
| F/K | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -2.15 | Highly Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| F/L | 0.9774 | likely_pathogenic | 0.9526 | pathogenic | -1.008 | Destabilizing | 0.997 | D | 0.603 | neutral | N | 0.417103806 | None | None | N |
| F/M | 0.9472 | likely_pathogenic | 0.909 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9976 | pathogenic | -2.841 | Highly Destabilizing | 0.999 | D | 0.911 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/Q | 0.9981 | likely_pathogenic | 0.997 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/R | 0.9955 | likely_pathogenic | 0.9938 | pathogenic | -1.955 | Destabilizing | 0.999 | D | 0.916 | deleterious | None | None | None | None | N |
| F/S | 0.9964 | likely_pathogenic | 0.9941 | pathogenic | -3.282 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.643712546 | None | None | N |
| F/T | 0.9942 | likely_pathogenic | 0.9911 | pathogenic | -2.922 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| F/V | 0.8772 | likely_pathogenic | 0.8373 | pathogenic | -1.52 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | D | 0.599155657 | None | None | N |
| F/W | 0.9522 | likely_pathogenic | 0.935 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| F/Y | 0.8326 | likely_pathogenic | 0.7783 | pathogenic | -0.7 | Destabilizing | 0.997 | D | 0.579 | neutral | D | 0.603933325 | 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.