Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2677 | 8254;8255;8256 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| N2AB | 2677 | 8254;8255;8256 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| N2A | 2677 | 8254;8255;8256 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| N2B | 2631 | 8116;8117;8118 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| Novex-1 | 2631 | 8116;8117;8118 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| Novex-2 | 2631 | 8116;8117;8118 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
| Novex-3 | 2677 | 8254;8255;8256 | chr2:178771298;178771297;178771296 | chr2:179636025;179636024;179636023 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs2091449758  |
None | None | N | 0.47 | 0.231 | 0.689912882814 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 0 | 0 |
| I/T | rs2091449758 |
None | 0.001 | N | 0.295 | 0.226 | 0.595302103986 | gnomAD-4.0.0 | 2.05225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.56201E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.298 | likely_benign | 0.2897 | benign | -2.657 | Highly Destabilizing | 0.007 | N | 0.385 | neutral | None | None | None | None | N |
| I/C | 0.5199 | ambiguous | 0.5165 | ambiguous | -1.94 | Destabilizing | 0.356 | N | 0.49 | neutral | None | None | None | None | N |
| I/D | 0.5962 | likely_pathogenic | 0.5829 | pathogenic | -2.871 | Highly Destabilizing | 0.038 | N | 0.499 | neutral | None | None | None | None | N |
| I/E | 0.4046 | ambiguous | 0.3944 | ambiguous | -2.729 | Highly Destabilizing | 0.072 | N | 0.509 | neutral | None | None | None | None | N |
| I/F | 0.1375 | likely_benign | 0.1253 | benign | -1.603 | Destabilizing | 0.171 | N | 0.49 | neutral | D | 0.567167444 | None | None | N |
| I/G | 0.5839 | likely_pathogenic | 0.592 | pathogenic | -3.102 | Highly Destabilizing | 0.038 | N | 0.503 | neutral | None | None | None | None | N |
| I/H | 0.232 | likely_benign | 0.2154 | benign | -2.307 | Highly Destabilizing | 0.356 | N | 0.532 | neutral | None | None | None | None | N |
| I/K | 0.1917 | likely_benign | 0.1786 | benign | -2.074 | Highly Destabilizing | 0.072 | N | 0.501 | neutral | None | None | None | None | N |
| I/L | 0.1169 | likely_benign | 0.1143 | benign | -1.397 | Destabilizing | 0.005 | N | 0.323 | neutral | N | 0.508354957 | None | None | N |
| I/M | 0.1127 | likely_benign | 0.1064 | benign | -1.35 | Destabilizing | 0.171 | N | 0.501 | neutral | D | 0.554601144 | None | None | N |
| I/N | 0.1512 | likely_benign | 0.1453 | benign | -2.201 | Highly Destabilizing | None | N | 0.47 | neutral | N | 0.51303778 | None | None | N |
| I/P | 0.9418 | likely_pathogenic | 0.927 | pathogenic | -1.797 | Destabilizing | 0.356 | N | 0.559 | neutral | None | None | None | None | N |
| I/Q | 0.2609 | likely_benign | 0.247 | benign | -2.227 | Highly Destabilizing | 0.356 | N | 0.545 | neutral | None | None | None | None | N |
| I/R | 0.1384 | likely_benign | 0.1271 | benign | -1.531 | Destabilizing | 0.214 | N | 0.556 | neutral | None | None | None | None | N |
| I/S | 0.207 | likely_benign | 0.1965 | benign | -2.848 | Highly Destabilizing | 0.002 | N | 0.41 | neutral | N | 0.508087025 | None | None | N |
| I/T | 0.1584 | likely_benign | 0.1446 | benign | -2.591 | Highly Destabilizing | 0.001 | N | 0.295 | neutral | N | 0.473133435 | None | None | N |
| I/V | 0.0735 | likely_benign | 0.0726 | benign | -1.797 | Destabilizing | None | N | 0.205 | neutral | N | 0.455995726 | None | None | N |
| I/W | 0.664 | likely_pathogenic | 0.6275 | pathogenic | -1.862 | Destabilizing | 0.864 | D | 0.577 | neutral | None | None | None | None | N |
| I/Y | 0.3096 | likely_benign | 0.2885 | benign | -1.672 | Destabilizing | 0.356 | N | 0.516 | 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.