Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6617 | 20074;20075;20076 | chr2:178727729;178727728;178727727 | chr2:179592456;179592455;179592454 |
| N2AB | 6300 | 19123;19124;19125 | chr2:178727729;178727728;178727727 | chr2:179592456;179592455;179592454 |
| N2A | 5373 | 16342;16343;16344 | chr2:178727729;178727728;178727727 | chr2:179592456;179592455;179592454 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs371847228  |
0.166 | 1.0 | N | 0.684 | 0.43 | None | gnomAD-2.1.1 | 6.78E-05 | None | None | None | None | N | None | 6.20347E-04 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40449E-04 |
| G/D | rs371847228 |
0.166 | 1.0 | N | 0.684 | 0.43 | None | gnomAD-3.1.2 | 2.17025E-04 | None | None | None | None | N | None | 7.48395E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs371847228 |
0.166 | 1.0 | N | 0.684 | 0.43 | None | gnomAD-4.0.0 | 3.53334E-05 | None | None | None | None | N | None | 6.54608E-04 | 8.33722E-05 | None | 0 | 0 | None | 0 | 0 | 8.47836E-07 | 0 | 3.20318E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.239 | likely_benign | 0.2039 | benign | -0.19 | Destabilizing | 0.998 | D | 0.597 | neutral | N | 0.488345906 | None | None | N |
| G/C | 0.4201 | ambiguous | 0.3856 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.516364889 | None | None | N |
| G/D | 0.3446 | ambiguous | 0.3463 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.453690651 | None | None | N |
| G/E | 0.3745 | ambiguous | 0.3992 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/F | 0.6961 | likely_pathogenic | 0.6754 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/H | 0.5667 | likely_pathogenic | 0.5537 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/I | 0.4799 | ambiguous | 0.458 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/K | 0.6005 | likely_pathogenic | 0.6456 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/L | 0.5265 | ambiguous | 0.4914 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/M | 0.6407 | likely_pathogenic | 0.6077 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/N | 0.3989 | ambiguous | 0.3601 | ambiguous | -0.423 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/P | 0.9134 | likely_pathogenic | 0.9075 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/Q | 0.516 | ambiguous | 0.5228 | ambiguous | -0.648 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/R | 0.5 | ambiguous | 0.5442 | ambiguous | -0.354 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.475850739 | None | None | N |
| G/S | 0.115 | likely_benign | 0.0957 | benign | -0.603 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.506287791 | None | None | N |
| G/T | 0.2304 | likely_benign | 0.2002 | benign | -0.67 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/V | 0.3577 | ambiguous | 0.3403 | ambiguous | -0.237 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.493234205 | None | None | N |
| G/W | 0.6484 | likely_pathogenic | 0.6376 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6485 | likely_pathogenic | 0.6196 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.