Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28335 | 85228;85229;85230 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| N2AB | 26694 | 80305;80306;80307 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| N2A | 25767 | 77524;77525;77526 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| N2B | 19270 | 58033;58034;58035 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| Novex-1 | 19395 | 58408;58409;58410 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| Novex-2 | 19462 | 58609;58610;58611 | chr2:178561129;178561128;178561127 | chr2:179425856;179425855;179425854 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs147895770  |
-0.495 | 0.244 | N | 0.279 | 0.064 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs147895770 |
-0.495 | 0.244 | N | 0.279 | 0.064 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.3524E-03 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs147895770 |
-0.495 | 0.244 | N | 0.279 | 0.064 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/A | rs147895770 |
-0.495 | 0.244 | N | 0.279 | 0.064 | None | gnomAD-4.0.0 | 4.21361E-05 | None | None | None | None | N | None | 0 | 1.66678E-05 | None | 0 | 1.49427E-03 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs1703498485 |
None | 0.001 | N | 0.179 | 0.109 | 0.398581233421 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs1703498485 |
None | 0.001 | N | 0.179 | 0.109 | 0.398581233421 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | N | None | 0 | 6.55738E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.076 | likely_benign | 0.0679 | benign | -0.503 | Destabilizing | 0.244 | N | 0.279 | neutral | N | 0.401238704 | None | None | N |
| S/C | 0.0904 | likely_benign | 0.0913 | benign | -0.456 | Destabilizing | 0.981 | D | 0.479 | neutral | None | None | None | None | N |
| S/D | 0.5677 | likely_pathogenic | 0.501 | ambiguous | -1.006 | Destabilizing | 0.704 | D | 0.359 | neutral | None | None | None | None | N |
| S/E | 0.654 | likely_pathogenic | 0.5838 | pathogenic | -1.074 | Destabilizing | 0.329 | N | 0.357 | neutral | None | None | None | None | N |
| S/F | 0.2202 | likely_benign | 0.1875 | benign | -1.158 | Destabilizing | 0.893 | D | 0.485 | neutral | None | None | None | None | N |
| S/G | 0.1274 | likely_benign | 0.1183 | benign | -0.623 | Destabilizing | 0.665 | D | 0.362 | neutral | None | None | None | None | N |
| S/H | 0.3942 | ambiguous | 0.3503 | ambiguous | -1.234 | Destabilizing | 0.944 | D | 0.493 | neutral | None | None | None | None | N |
| S/I | 0.1394 | likely_benign | 0.118 | benign | -0.302 | Destabilizing | 0.329 | N | 0.428 | neutral | None | None | None | None | N |
| S/K | 0.7691 | likely_pathogenic | 0.7107 | pathogenic | -0.616 | Destabilizing | 0.329 | N | 0.355 | neutral | None | None | None | None | N |
| S/L | 0.0896 | likely_benign | 0.0787 | benign | -0.302 | Destabilizing | 0.001 | N | 0.179 | neutral | N | 0.393486013 | None | None | N |
| S/M | 0.1586 | likely_benign | 0.1457 | benign | 0.237 | Stabilizing | 0.893 | D | 0.486 | neutral | None | None | None | None | N |
| S/N | 0.1819 | likely_benign | 0.1647 | benign | -0.579 | Destabilizing | 0.828 | D | 0.392 | neutral | None | None | None | None | N |
| S/P | 0.9304 | likely_pathogenic | 0.8711 | pathogenic | -0.343 | Destabilizing | 0.917 | D | 0.449 | neutral | N | 0.450899521 | None | None | N |
| S/Q | 0.5464 | ambiguous | 0.4978 | ambiguous | -0.99 | Destabilizing | 0.085 | N | 0.183 | neutral | None | None | None | None | N |
| S/R | 0.6784 | likely_pathogenic | 0.6051 | pathogenic | -0.293 | Destabilizing | 0.704 | D | 0.419 | neutral | None | None | None | None | N |
| S/T | 0.0753 | likely_benign | 0.0686 | benign | -0.551 | Destabilizing | 0.6 | D | 0.403 | neutral | N | 0.451379523 | None | None | N |
| S/V | 0.1345 | likely_benign | 0.1153 | benign | -0.343 | Destabilizing | 0.329 | N | 0.402 | neutral | None | None | None | None | N |
| S/W | 0.4254 | ambiguous | 0.3687 | ambiguous | -1.146 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| S/Y | 0.198 | likely_benign | 0.1749 | benign | -0.837 | Destabilizing | 0.944 | D | 0.509 | 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.