Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27491 | 82696;82697;82698 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| N2AB | 25850 | 77773;77774;77775 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| N2A | 24923 | 74992;74993;74994 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| N2B | 18426 | 55501;55502;55503 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| Novex-1 | 18551 | 55876;55877;55878 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| Novex-2 | 18618 | 56077;56078;56079 | chr2:178563661;178563660;178563659 | chr2:179428388;179428387;179428386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs370087858  |
-1.568 | 0.012 | N | 0.295 | 0.045 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| A/S | rs370087858 |
-1.568 | 0.012 | N | 0.295 | 0.045 | None | gnomAD-4.0.0 | 2.87363E-05 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.68784E-05 | 0 | 0 |
| A/V | None | None | 0.012 | N | 0.334 | 0.066 | 0.330589388543 | gnomAD-4.0.0 | 4.77354E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57481E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2835 | likely_benign | 0.2891 | benign | -0.914 | Destabilizing | 0.676 | D | 0.446 | neutral | None | None | None | None | N |
| A/D | 0.1509 | likely_benign | 0.1777 | benign | -1.121 | Destabilizing | 0.016 | N | 0.344 | neutral | None | None | None | None | N |
| A/E | 0.1331 | likely_benign | 0.1452 | benign | -1.098 | Destabilizing | None | N | 0.202 | neutral | N | 0.342008682 | None | None | N |
| A/F | 0.2846 | likely_benign | 0.2971 | benign | -0.882 | Destabilizing | 0.356 | N | 0.487 | neutral | None | None | None | None | N |
| A/G | 0.0823 | likely_benign | 0.0852 | benign | -1.166 | Destabilizing | None | N | 0.087 | neutral | N | 0.431689323 | None | None | N |
| A/H | 0.3041 | likely_benign | 0.3144 | benign | -1.305 | Destabilizing | 0.214 | N | 0.481 | neutral | None | None | None | None | N |
| A/I | 0.1909 | likely_benign | 0.1943 | benign | -0.166 | Destabilizing | 0.038 | N | 0.513 | neutral | None | None | None | None | N |
| A/K | 0.2613 | likely_benign | 0.2705 | benign | -1.17 | Destabilizing | 0.016 | N | 0.375 | neutral | None | None | None | None | N |
| A/L | 0.1239 | likely_benign | 0.1252 | benign | -0.166 | Destabilizing | 0.038 | N | 0.401 | neutral | None | None | None | None | N |
| A/M | 0.1601 | likely_benign | 0.1653 | benign | -0.258 | Destabilizing | 0.356 | N | 0.453 | neutral | None | None | None | None | N |
| A/N | 0.1198 | likely_benign | 0.1283 | benign | -1.02 | Destabilizing | None | N | 0.342 | neutral | None | None | None | None | N |
| A/P | 0.33 | likely_benign | 0.3706 | ambiguous | -0.355 | Destabilizing | 0.106 | N | 0.469 | neutral | N | 0.467244692 | None | None | N |
| A/Q | 0.1865 | likely_benign | 0.1916 | benign | -1.077 | Destabilizing | 0.072 | N | 0.465 | neutral | None | None | None | None | N |
| A/R | 0.2638 | likely_benign | 0.2687 | benign | -0.912 | Destabilizing | 0.072 | N | 0.469 | neutral | None | None | None | None | N |
| A/S | 0.0709 | likely_benign | 0.0737 | benign | -1.395 | Destabilizing | 0.012 | N | 0.295 | neutral | N | 0.370483362 | None | None | N |
| A/T | 0.0709 | likely_benign | 0.0723 | benign | -1.255 | Destabilizing | None | N | 0.096 | neutral | N | 0.365885619 | None | None | N |
| A/V | 0.11 | likely_benign | 0.1118 | benign | -0.355 | Destabilizing | 0.012 | N | 0.334 | neutral | N | 0.439866089 | None | None | N |
| A/W | 0.6129 | likely_pathogenic | 0.6242 | pathogenic | -1.289 | Destabilizing | 0.864 | D | 0.525 | neutral | None | None | None | None | N |
| A/Y | 0.3326 | likely_benign | 0.3408 | ambiguous | -0.828 | Destabilizing | 0.356 | N | 0.486 | 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.