Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24125 | 72598;72599;72600 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| N2AB | 22484 | 67675;67676;67677 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| N2A | 21557 | 64894;64895;64896 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| N2B | 15060 | 45403;45404;45405 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| Novex-1 | 15185 | 45778;45779;45780 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| Novex-2 | 15252 | 45979;45980;45981 | chr2:178573759;178573758;178573757 | chr2:179438486;179438485;179438484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.876 | 0.464 | 0.744696741112 | gnomAD-4.0.0 | 6.95959E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.08617E-07 | 0 | 0 |
| P/T | rs1480996647  |
-1.628 | 1.0 | N | 0.825 | 0.417 | 0.516491959214 | gnomAD-2.1.1 | 8.55E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.87E-05 | 0 |
| P/T | rs1480996647 |
-1.628 | 1.0 | N | 0.825 | 0.417 | 0.516491959214 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/T | rs1480996647 |
-1.628 | 1.0 | N | 0.825 | 0.417 | 0.516491959214 | gnomAD-4.0.0 | 2.82183E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.75828E-05 | 0 | 1.62222E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1184 | likely_benign | 0.1311 | benign | -1.568 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.46677952 | None | None | N |
| P/C | 0.5007 | ambiguous | 0.5612 | ambiguous | -0.971 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.8103 | likely_pathogenic | 0.8214 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/E | 0.53 | ambiguous | 0.5446 | ambiguous | -1.706 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.5832 | likely_pathogenic | 0.5967 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/G | 0.558 | ambiguous | 0.5959 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.3234 | likely_benign | 0.3356 | benign | -1.372 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/I | 0.3322 | likely_benign | 0.3493 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/K | 0.332 | likely_benign | 0.3384 | benign | -1.276 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/L | 0.1633 | likely_benign | 0.1698 | benign | -0.899 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.531383223 | None | None | N |
| P/M | 0.3537 | ambiguous | 0.362 | ambiguous | -0.6 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.6329 | likely_pathogenic | 0.6627 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Q | 0.2487 | likely_benign | 0.2608 | benign | -1.261 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.518252491 | None | None | N |
| P/R | 0.2279 | likely_benign | 0.2372 | benign | -0.664 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.516126124 | None | None | N |
| P/S | 0.2544 | likely_benign | 0.2767 | benign | -1.446 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.499894747 | None | None | N |
| P/T | 0.2292 | likely_benign | 0.2479 | benign | -1.388 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.514746999 | None | None | N |
| P/V | 0.253 | likely_benign | 0.2741 | benign | -1.089 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/W | 0.8073 | likely_pathogenic | 0.8216 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Y | 0.6156 | likely_pathogenic | 0.6257 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.889 | 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.