Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35166 | 105721;105722;105723 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| N2AB | 33525 | 100798;100799;100800 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| N2A | 32598 | 98017;98018;98019 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| N2B | 26101 | 78526;78527;78528 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| Novex-1 | 26226 | 78901;78902;78903 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| Novex-2 | 26293 | 79102;79103;79104 | chr2:178531119;178531118;178531117 | chr2:179395846;179395845;179395844 |
| 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/V | rs1060500538  |
-0.045 | 0.122 | D | 0.322 | 0.386 | 0.629718971361 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1060500538 |
-0.045 | 0.122 | D | 0.322 | 0.386 | 0.629718971361 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3359 | likely_benign | 0.2864 | benign | -0.322 | Destabilizing | 0.057 | N | 0.255 | neutral | N | 0.474518655 | None | None | N |
| G/C | 0.5288 | ambiguous | 0.4503 | ambiguous | -1.05 | Destabilizing | 0.998 | D | 0.474 | neutral | None | None | None | None | N |
| G/D | 0.1643 | likely_benign | 0.1457 | benign | -0.593 | Destabilizing | 0.954 | D | 0.367 | neutral | None | None | None | None | N |
| G/E | 0.2087 | likely_benign | 0.1813 | benign | -0.746 | Destabilizing | 0.818 | D | 0.403 | neutral | N | 0.502815916 | None | None | N |
| G/F | 0.8303 | likely_pathogenic | 0.7846 | pathogenic | -0.981 | Destabilizing | 0.977 | D | 0.47 | neutral | None | None | None | None | N |
| G/H | 0.4994 | ambiguous | 0.429 | ambiguous | -0.368 | Destabilizing | 0.998 | D | 0.407 | neutral | None | None | None | None | N |
| G/I | 0.7123 | likely_pathogenic | 0.6188 | pathogenic | -0.506 | Destabilizing | 0.913 | D | 0.481 | neutral | None | None | None | None | N |
| G/K | 0.4733 | ambiguous | 0.3989 | ambiguous | -0.846 | Destabilizing | 0.748 | D | 0.391 | neutral | None | None | None | None | N |
| G/L | 0.7533 | likely_pathogenic | 0.7023 | pathogenic | -0.506 | Destabilizing | 0.748 | D | 0.397 | neutral | None | None | None | None | N |
| G/M | 0.7634 | likely_pathogenic | 0.7087 | pathogenic | -0.699 | Destabilizing | 0.994 | D | 0.468 | neutral | None | None | None | None | N |
| G/N | 0.2538 | likely_benign | 0.2209 | benign | -0.576 | Destabilizing | 0.954 | D | 0.373 | neutral | None | None | None | None | N |
| G/P | 0.9516 | likely_pathogenic | 0.919 | pathogenic | -0.416 | Destabilizing | 0.977 | D | 0.429 | neutral | None | None | None | None | N |
| G/Q | 0.3561 | ambiguous | 0.2997 | benign | -0.833 | Destabilizing | 0.954 | D | 0.429 | neutral | None | None | None | None | N |
| G/R | 0.3653 | ambiguous | 0.3001 | benign | -0.383 | Destabilizing | 0.031 | N | 0.263 | neutral | N | 0.488913154 | None | None | N |
| G/S | 0.144 | likely_benign | 0.127 | benign | -0.731 | Destabilizing | 0.188 | N | 0.232 | neutral | None | None | None | None | N |
| G/T | 0.3966 | ambiguous | 0.3301 | benign | -0.813 | Destabilizing | 0.748 | D | 0.346 | neutral | None | None | None | None | N |
| G/V | 0.5762 | likely_pathogenic | 0.485 | ambiguous | -0.416 | Destabilizing | 0.122 | N | 0.322 | neutral | D | 0.526389112 | None | None | N |
| G/W | 0.6333 | likely_pathogenic | 0.5716 | pathogenic | -1.098 | Destabilizing | 0.998 | D | 0.508 | neutral | None | None | None | None | N |
| G/Y | 0.6511 | likely_pathogenic | 0.5897 | pathogenic | -0.787 | Destabilizing | 0.992 | D | 0.47 | 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.