Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27472 | 82639;82640;82641 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| N2AB | 25831 | 77716;77717;77718 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| N2A | 24904 | 74935;74936;74937 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| N2B | 18407 | 55444;55445;55446 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| Novex-1 | 18532 | 55819;55820;55821 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| Novex-2 | 18599 | 56020;56021;56022 | chr2:178563718;178563717;178563716 | chr2:179428445;179428444;179428443 |
| 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 | rs747864468  |
-0.782 | 0.896 | N | 0.851 | 0.478 | 0.661443717991 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 0 |
| P/L | rs747864468 |
-0.782 | 0.896 | N | 0.851 | 0.478 | 0.661443717991 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs747864468 |
-0.782 | 0.896 | N | 0.851 | 0.478 | 0.661443717991 | gnomAD-4.0.0 | 3.09857E-06 | None | None | None | None | N | None | 4.0047E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69524E-06 | 0 | 0 |
| P/R | None | None | 0.984 | N | 0.869 | 0.467 | 0.528409864224 | gnomAD-4.0.0 | 6.84205E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99475E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0655 | likely_benign | 0.0663 | benign | -1.344 | Destabilizing | 0.011 | N | 0.406 | neutral | N | 0.442151459 | None | None | N |
| P/C | 0.3497 | ambiguous | 0.3823 | ambiguous | -0.937 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| P/D | 0.7727 | likely_pathogenic | 0.7776 | pathogenic | -1.452 | Destabilizing | 0.976 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.4067 | ambiguous | 0.4094 | ambiguous | -1.514 | Destabilizing | 0.976 | D | 0.805 | deleterious | None | None | None | None | N |
| P/F | 0.4716 | ambiguous | 0.5028 | ambiguous | -1.335 | Destabilizing | 0.996 | D | 0.882 | deleterious | None | None | None | None | N |
| P/G | 0.375 | ambiguous | 0.3794 | ambiguous | -1.585 | Destabilizing | 0.851 | D | 0.801 | deleterious | None | None | None | None | N |
| P/H | 0.2507 | likely_benign | 0.2562 | benign | -1.131 | Destabilizing | 0.999 | D | 0.845 | deleterious | D | 0.538384662 | None | None | N |
| P/I | 0.318 | likely_benign | 0.3286 | benign | -0.8 | Destabilizing | 0.976 | D | 0.881 | deleterious | None | None | None | None | N |
| P/K | 0.2329 | likely_benign | 0.2256 | benign | -0.996 | Destabilizing | 0.976 | D | 0.809 | deleterious | None | None | None | None | N |
| P/L | 0.162 | likely_benign | 0.1637 | benign | -0.8 | Destabilizing | 0.896 | D | 0.851 | deleterious | N | 0.520026918 | None | None | N |
| P/M | 0.2904 | likely_benign | 0.3054 | benign | -0.539 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| P/N | 0.5179 | ambiguous | 0.5416 | ambiguous | -0.736 | Destabilizing | 0.976 | D | 0.869 | deleterious | None | None | None | None | N |
| P/Q | 0.1602 | likely_benign | 0.1603 | benign | -1.039 | Destabilizing | 0.988 | D | 0.784 | deleterious | None | None | None | None | N |
| P/R | 0.153 | likely_benign | 0.1457 | benign | -0.423 | Destabilizing | 0.984 | D | 0.869 | deleterious | N | 0.507403165 | None | None | N |
| P/S | 0.1411 | likely_benign | 0.1483 | benign | -1.165 | Destabilizing | 0.437 | N | 0.494 | neutral | N | 0.476688383 | None | None | N |
| P/T | 0.1602 | likely_benign | 0.1669 | benign | -1.132 | Destabilizing | 0.896 | D | 0.791 | deleterious | N | 0.511126148 | None | None | N |
| P/V | 0.2287 | likely_benign | 0.2334 | benign | -0.948 | Destabilizing | 0.851 | D | 0.843 | deleterious | None | None | None | None | N |
| P/W | 0.7118 | likely_pathogenic | 0.7275 | pathogenic | -1.433 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| P/Y | 0.5029 | ambiguous | 0.5245 | ambiguous | -1.144 | Destabilizing | 0.996 | D | 0.882 | 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.