Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15726 | 47401;47402;47403 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| N2AB | 14085 | 42478;42479;42480 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| N2A | 13158 | 39697;39698;39699 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| N2B | 6661 | 20206;20207;20208 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| Novex-1 | 6786 | 20581;20582;20583 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| Novex-2 | 6853 | 20782;20783;20784 | chr2:178618282;178618281;178618280 | chr2:179483009;179483008;179483007 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs768983974  |
-0.789 | None | N | 0.137 | 0.072 | 0.253726318573 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/I | rs768983974 |
-0.789 | None | N | 0.137 | 0.072 | 0.253726318573 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs768983974 |
-0.789 | None | N | 0.137 | 0.072 | 0.253726318573 | gnomAD-4.0.0 | 1.86031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54421E-06 | 0 | 0 |
| V/L | None | None | 0.009 | N | 0.37 | 0.052 | 0.300784259202 | gnomAD-4.0.0 | 6.84593E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99881E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1638 | likely_benign | 0.1937 | benign | -1.713 | Destabilizing | 0.027 | N | 0.328 | neutral | N | 0.439564154 | None | None | N |
| V/C | 0.6573 | likely_pathogenic | 0.6193 | pathogenic | -1.105 | Destabilizing | 0.935 | D | 0.438 | neutral | None | None | None | None | N |
| V/D | 0.5097 | ambiguous | 0.6094 | pathogenic | -1.533 | Destabilizing | 0.117 | N | 0.511 | neutral | N | 0.481119392 | None | None | N |
| V/E | 0.4359 | ambiguous | 0.5235 | ambiguous | -1.496 | Destabilizing | 0.149 | N | 0.449 | neutral | None | None | None | None | N |
| V/F | 0.2134 | likely_benign | 0.2455 | benign | -1.214 | Destabilizing | 0.317 | N | 0.475 | neutral | N | 0.477936483 | None | None | N |
| V/G | 0.2159 | likely_benign | 0.2575 | benign | -2.077 | Highly Destabilizing | 0.117 | N | 0.462 | neutral | N | 0.479777821 | None | None | N |
| V/H | 0.6008 | likely_pathogenic | 0.6581 | pathogenic | -1.565 | Destabilizing | 0.935 | D | 0.501 | neutral | None | None | None | None | N |
| V/I | 0.0821 | likely_benign | 0.0888 | benign | -0.789 | Destabilizing | None | N | 0.137 | neutral | N | 0.467738551 | None | None | N |
| V/K | 0.4908 | ambiguous | 0.5996 | pathogenic | -1.305 | Destabilizing | 0.149 | N | 0.47 | neutral | None | None | None | None | N |
| V/L | 0.2236 | likely_benign | 0.2711 | benign | -0.789 | Destabilizing | 0.009 | N | 0.37 | neutral | N | 0.480746741 | None | None | N |
| V/M | 0.1489 | likely_benign | 0.1733 | benign | -0.631 | Destabilizing | 0.38 | N | 0.435 | neutral | None | None | None | None | N |
| V/N | 0.2366 | likely_benign | 0.2976 | benign | -1.12 | Destabilizing | 0.38 | N | 0.523 | neutral | None | None | None | None | N |
| V/P | 0.5906 | likely_pathogenic | 0.6641 | pathogenic | -1.063 | Destabilizing | 0.001 | N | 0.278 | neutral | None | None | None | None | N |
| V/Q | 0.35 | ambiguous | 0.3985 | ambiguous | -1.265 | Destabilizing | 0.555 | D | 0.49 | neutral | None | None | None | None | N |
| V/R | 0.4445 | ambiguous | 0.5505 | ambiguous | -0.817 | Destabilizing | 0.38 | N | 0.534 | neutral | None | None | None | None | N |
| V/S | 0.1815 | likely_benign | 0.2293 | benign | -1.702 | Destabilizing | 0.003 | N | 0.185 | neutral | None | None | None | None | N |
| V/T | 0.1498 | likely_benign | 0.167 | benign | -1.552 | Destabilizing | 0.001 | N | 0.12 | neutral | None | None | None | None | N |
| V/W | 0.8271 | likely_pathogenic | 0.8576 | pathogenic | -1.42 | Destabilizing | 0.935 | D | 0.547 | neutral | None | None | None | None | N |
| V/Y | 0.5616 | ambiguous | 0.6167 | pathogenic | -1.137 | Destabilizing | 0.555 | D | 0.478 | neutral | 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.