Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27283 | 82072;82073;82074 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| N2AB | 25642 | 77149;77150;77151 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| N2A | 24715 | 74368;74369;74370 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| N2B | 18218 | 54877;54878;54879 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| Novex-1 | 18343 | 55252;55253;55254 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| Novex-2 | 18410 | 55453;55454;55455 | chr2:178564285;178564284;178564283 | chr2:179429012;179429011;179429010 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs772380943  |
1.696 | 0.989 | N | 0.6 | 0.518 | 0.428169733428 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/G | rs772380943 |
1.696 | 0.989 | N | 0.6 | 0.518 | 0.428169733428 | gnomAD-4.0.0 | 3.18421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 0 |
| D/H | rs776062891 |
1.553 | 1.0 | D | 0.783 | 0.343 | 0.424549175451 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/H | rs776062891 |
1.553 | 1.0 | D | 0.783 | 0.343 | 0.424549175451 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 0 | 0 |
| D/V | rs772380943 |
2.808 | 0.998 | N | 0.798 | 0.553 | 0.668332904109 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2724 | likely_benign | 0.2662 | benign | -0.142 | Destabilizing | 0.989 | D | 0.659 | neutral | D | 0.524170702 | None | None | N |
| D/C | 0.8096 | likely_pathogenic | 0.8244 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/E | 0.1911 | likely_benign | 0.173 | benign | -0.311 | Destabilizing | 0.543 | D | 0.397 | neutral | N | 0.474856603 | None | None | N |
| D/F | 0.8111 | likely_pathogenic | 0.82 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/G | 0.2067 | likely_benign | 0.1841 | benign | -0.302 | Destabilizing | 0.989 | D | 0.6 | neutral | N | 0.503471551 | None | None | N |
| D/H | 0.4493 | ambiguous | 0.4584 | ambiguous | 0.383 | Stabilizing | 1.0 | D | 0.783 | deleterious | D | 0.534734412 | None | None | N |
| D/I | 0.662 | likely_pathogenic | 0.6792 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/K | 0.5621 | ambiguous | 0.5633 | ambiguous | 0.383 | Stabilizing | 0.992 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/L | 0.6359 | likely_pathogenic | 0.6507 | pathogenic | 0.224 | Stabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| D/M | 0.7486 | likely_pathogenic | 0.7662 | pathogenic | 0.131 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/N | 0.133 | likely_benign | 0.1205 | benign | -0.011 | Destabilizing | 0.733 | D | 0.38 | neutral | N | 0.504064789 | None | None | N |
| D/P | 0.8808 | likely_pathogenic | 0.8736 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Q | 0.48 | ambiguous | 0.478 | ambiguous | 0.03 | Stabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/R | 0.6237 | likely_pathogenic | 0.6304 | pathogenic | 0.626 | Stabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| D/S | 0.1945 | likely_benign | 0.1791 | benign | -0.075 | Destabilizing | 0.992 | D | 0.537 | neutral | None | None | None | None | N |
| D/T | 0.3458 | ambiguous | 0.3407 | ambiguous | 0.06 | Stabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/V | 0.412 | ambiguous | 0.4283 | ambiguous | 0.123 | Stabilizing | 0.998 | D | 0.798 | deleterious | N | 0.497141675 | None | None | N |
| D/W | 0.9365 | likely_pathogenic | 0.9443 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Y | 0.359 | ambiguous | 0.39 | ambiguous | 0.164 | Stabilizing | 1.0 | D | 0.809 | deleterious | N | 0.515752909 | 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.