Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2361 | 7306;7307;7308 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| N2AB | 2361 | 7306;7307;7308 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| N2A | 2361 | 7306;7307;7308 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| N2B | 2315 | 7168;7169;7170 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| Novex-1 | 2315 | 7168;7169;7170 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| Novex-2 | 2315 | 7168;7169;7170 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
| Novex-3 | 2361 | 7306;7307;7308 | chr2:178774087;178774086;178774085 | chr2:179638814;179638813;179638812 |
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/A | None | None | 0.996 | N | 0.527 | 0.357 | 0.380223377699 | gnomAD-4.0.0 | 1.36822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79862E-06 | 0 | 0 |
| G/E | rs763682763  |
-0.271 | 0.999 | N | 0.765 | 0.464 | 0.508517017164 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| G/E | rs763682763 |
-0.271 | 0.999 | N | 0.765 | 0.464 | 0.508517017164 | gnomAD-4.0.0 | 2.05232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69793E-06 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.795 | 0.425 | 0.61403422888 | gnomAD-4.0.0 | 6.84108E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65579E-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 | 0.1446 | likely_benign | 0.143 | benign | -0.365 | Destabilizing | 0.996 | D | 0.527 | neutral | N | 0.506667083 | None | None | N |
| G/C | 0.3449 | ambiguous | 0.3336 | benign | -0.87 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/D | 0.4399 | ambiguous | 0.4127 | ambiguous | -0.307 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/E | 0.3446 | ambiguous | 0.3238 | benign | -0.433 | Destabilizing | 0.999 | D | 0.765 | deleterious | N | 0.504074894 | None | None | N |
| G/F | 0.7752 | likely_pathogenic | 0.7403 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/H | 0.6149 | likely_pathogenic | 0.5913 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/I | 0.4666 | ambiguous | 0.4364 | ambiguous | -0.313 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/K | 0.6329 | likely_pathogenic | 0.604 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/L | 0.603 | likely_pathogenic | 0.5666 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/M | 0.6194 | likely_pathogenic | 0.5853 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/N | 0.4361 | ambiguous | 0.4074 | ambiguous | -0.504 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/P | 0.5001 | ambiguous | 0.5363 | ambiguous | -0.292 | Destabilizing | 0.504 | D | 0.431 | neutral | None | None | None | None | N |
| G/Q | 0.485 | ambiguous | 0.4663 | ambiguous | -0.725 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/R | 0.5362 | ambiguous | 0.5084 | ambiguous | -0.522 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.506019939 | None | None | N |
| G/S | 0.1375 | likely_benign | 0.13 | benign | -0.739 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| G/T | 0.237 | likely_benign | 0.2213 | benign | -0.783 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/V | 0.2921 | likely_benign | 0.2716 | benign | -0.292 | Destabilizing | 0.999 | D | 0.795 | deleterious | N | 0.50582576 | None | None | N |
| G/W | 0.6714 | likely_pathogenic | 0.6412 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6075 | likely_pathogenic | 0.5701 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.754 | deleterious | 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.