Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26261 | 79006;79007;79008 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| N2AB | 24620 | 74083;74084;74085 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| N2A | 23693 | 71302;71303;71304 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| N2B | 17196 | 51811;51812;51813 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| Novex-1 | 17321 | 52186;52187;52188 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| Novex-2 | 17388 | 52387;52388;52389 | chr2:178567351;178567350;178567349 | chr2:179432078;179432077;179432076 |
| 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/C | rs1179223519  |
-0.64 | 1.0 | N | 0.821 | 0.505 | 0.739630067429 | gnomAD-2.1.1 | 4.33E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.36E-06 | 0 |
| G/C | rs1179223519 |
-0.64 | 1.0 | N | 0.821 | 0.505 | 0.739630067429 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/C | rs1179223519 |
-0.64 | 1.0 | N | 0.821 | 0.505 | 0.739630067429 | gnomAD-4.0.0 | 3.92673E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.28046E-06 | 0 | 0 |
| G/D | None | None | 0.996 | D | 0.855 | 0.491 | 0.40749426699 | gnomAD-4.0.0 | 4.84215E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.5203E-06 | 0 | 3.35672E-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 | 0.1853 | likely_benign | 0.1751 | benign | -0.43 | Destabilizing | 0.969 | D | 0.559 | neutral | N | 0.47527789 | None | None | I |
| G/C | 0.3925 | ambiguous | 0.345 | ambiguous | -0.858 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.50497558 | None | None | I |
| G/D | 0.8592 | likely_pathogenic | 0.8231 | pathogenic | -0.232 | Destabilizing | 0.996 | D | 0.855 | deleterious | D | 0.524514632 | None | None | I |
| G/E | 0.8059 | likely_pathogenic | 0.7764 | pathogenic | -0.277 | Destabilizing | 0.997 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.9587 | likely_pathogenic | 0.9446 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/H | 0.8481 | likely_pathogenic | 0.8105 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/I | 0.8619 | likely_pathogenic | 0.8342 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/K | 0.8863 | likely_pathogenic | 0.8562 | pathogenic | -0.892 | Destabilizing | 0.993 | D | 0.858 | deleterious | None | None | None | None | I |
| G/L | 0.8856 | likely_pathogenic | 0.8637 | pathogenic | -0.038 | Destabilizing | 0.997 | D | 0.871 | deleterious | None | None | None | None | I |
| G/M | 0.8507 | likely_pathogenic | 0.8245 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/N | 0.7268 | likely_pathogenic | 0.6809 | pathogenic | -0.614 | Destabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | I |
| G/P | 0.9943 | likely_pathogenic | 0.9918 | pathogenic | -0.126 | Destabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.7578 | likely_pathogenic | 0.7236 | pathogenic | -0.694 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | I |
| G/R | 0.751 | likely_pathogenic | 0.6995 | pathogenic | -0.738 | Destabilizing | 0.996 | D | 0.869 | deleterious | N | 0.518492736 | None | None | I |
| G/S | 0.1014 | likely_benign | 0.0964 | benign | -0.981 | Destabilizing | 0.663 | D | 0.581 | neutral | N | 0.415960228 | None | None | I |
| G/T | 0.2166 | likely_benign | 0.2054 | benign | -0.916 | Destabilizing | 0.993 | D | 0.854 | deleterious | None | None | None | None | I |
| G/V | 0.7018 | likely_pathogenic | 0.6533 | pathogenic | -0.126 | Destabilizing | 0.996 | D | 0.877 | deleterious | N | 0.486831645 | None | None | I |
| G/W | 0.9179 | likely_pathogenic | 0.8871 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Y | 0.9148 | likely_pathogenic | 0.8838 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.859 | deleterious | 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.