Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9338 | 28237;28238;28239 | chr2:178711224;178711223;178711222 | chr2:179575951;179575950;179575949 |
| N2AB | 9021 | 27286;27287;27288 | chr2:178711224;178711223;178711222 | chr2:179575951;179575950;179575949 |
| N2A | 8094 | 24505;24506;24507 | chr2:178711224;178711223;178711222 | chr2:179575951;179575950;179575949 |
| 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/S | rs373598759  |
-0.74 | 0.992 | None | 0.563 | 0.353 | None | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 3.54E-05 | 0 |
| G/S | rs373598759 |
-0.74 | 0.992 | None | 0.563 | 0.353 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs373598759 |
-0.74 | 0.992 | None | 0.563 | 0.353 | None | gnomAD-4.0.0 | 3.96609E-05 | None | None | None | None | N | None | 6.67717E-05 | 1.66711E-05 | None | 0 | 2.22787E-05 | None | 0 | 0 | 4.83132E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3216 | likely_benign | 0.3214 | benign | -0.335 | Destabilizing | 0.977 | D | 0.513 | neutral | None | None | None | None | N |
| G/C | 0.5315 | ambiguous | 0.5426 | ambiguous | -0.901 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/D | 0.2211 | likely_benign | 0.252 | benign | -0.485 | Destabilizing | 0.987 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/E | 0.2742 | likely_benign | 0.2868 | benign | -0.62 | Destabilizing | 0.995 | D | 0.671 | neutral | None | None | None | None | N |
| G/F | 0.8227 | likely_pathogenic | 0.8131 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/H | 0.4631 | ambiguous | 0.4574 | ambiguous | -0.5 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/I | 0.6932 | likely_pathogenic | 0.7177 | pathogenic | -0.383 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/K | 0.4672 | ambiguous | 0.452 | ambiguous | -0.86 | Destabilizing | 0.635 | D | 0.407 | neutral | None | None | None | None | N |
| G/L | 0.7251 | likely_pathogenic | 0.707 | pathogenic | -0.383 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/M | 0.7175 | likely_pathogenic | 0.6957 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/N | 0.2561 | likely_benign | 0.2533 | benign | -0.542 | Destabilizing | 0.289 | N | 0.37 | neutral | None | None | None | None | N |
| G/P | 0.9879 | likely_pathogenic | 0.9903 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/Q | 0.3074 | likely_benign | 0.3 | benign | -0.776 | Destabilizing | 0.995 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/R | 0.3177 | likely_benign | 0.3136 | benign | -0.426 | Destabilizing | 0.995 | D | 0.673 | neutral | None | None | None | None | N |
| G/S | 0.1347 | likely_benign | 0.1381 | benign | -0.725 | Destabilizing | 0.992 | D | 0.563 | neutral | None | None | None | None | N |
| G/T | 0.3819 | ambiguous | 0.3945 | ambiguous | -0.78 | Destabilizing | 0.995 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/V | 0.6117 | likely_pathogenic | 0.634 | pathogenic | -0.333 | Destabilizing | 0.997 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/W | 0.6368 | likely_pathogenic | 0.6885 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/Y | 0.6608 | likely_pathogenic | 0.6785 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.729 | 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.