Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29680 | 89263;89264;89265 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| N2AB | 28039 | 84340;84341;84342 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| N2A | 27112 | 81559;81560;81561 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| N2B | 20615 | 62068;62069;62070 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| Novex-1 | 20740 | 62443;62444;62445 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| Novex-2 | 20807 | 62644;62645;62646 | chr2:178554073;178554072;178554071 | chr2:179418800;179418799;179418798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.673 | 0.562 | 0.746756757012 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| W/S | rs1386322398  |
-0.151 | 1.0 | N | 0.66 | 0.435 | 0.786328330707 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/S | rs1386322398 |
-0.151 | 1.0 | N | 0.66 | 0.435 | 0.786328330707 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9923 | likely_pathogenic | 0.9956 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| W/C | 0.993 | likely_pathogenic | 0.996 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.551001053 | None | None | I |
| W/D | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| W/E | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| W/F | 0.6798 | likely_pathogenic | 0.7211 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| W/G | 0.9688 | likely_pathogenic | 0.982 | pathogenic | -2.94 | Highly Destabilizing | 1.0 | D | 0.553 | neutral | N | 0.512221649 | None | None | I |
| W/H | 0.9887 | likely_pathogenic | 0.9922 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| W/I | 0.9847 | likely_pathogenic | 0.991 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| W/K | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| W/L | 0.9665 | likely_pathogenic | 0.9789 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.553 | neutral | N | 0.521714623 | None | None | I |
| W/M | 0.9915 | likely_pathogenic | 0.9952 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| W/N | 0.9947 | likely_pathogenic | 0.9967 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| W/P | 0.9955 | likely_pathogenic | 0.9974 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| W/Q | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| W/R | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.549987095 | None | None | I |
| W/S | 0.9769 | likely_pathogenic | 0.9866 | pathogenic | -2.517 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.51738621 | None | None | I |
| W/T | 0.9883 | likely_pathogenic | 0.9923 | pathogenic | -2.362 | Highly Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | I |
| W/V | 0.9843 | likely_pathogenic | 0.9905 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| W/Y | 0.8623 | likely_pathogenic | 0.8815 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | I |
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.