Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32187 | 96784;96785;96786 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| N2AB | 30546 | 91861;91862;91863 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| N2A | 29619 | 89080;89081;89082 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| N2B | 23122 | 69589;69590;69591 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| Novex-1 | 23247 | 69964;69965;69966 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| Novex-2 | 23314 | 70165;70166;70167 | chr2:178543414;178543413;178543412 | chr2:179408141;179408140;179408139 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs1377093791  |
-0.511 | 0.998 | N | 0.765 | 0.453 | 0.810754376879 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/N | rs1377093791 |
-0.511 | 0.998 | N | 0.765 | 0.453 | 0.810754376879 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | I | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1377093791 |
-0.983 | 0.863 | N | 0.585 | 0.344 | 0.650048549417 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/T | rs1377093791 |
-0.983 | 0.863 | N | 0.585 | 0.344 | 0.650048549417 | gnomAD-4.0.0 | 4.7737E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.07221E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3735 | ambiguous | 0.3124 | benign | -1.475 | Destabilizing | 0.92 | D | 0.573 | neutral | None | None | None | None | I |
| I/C | 0.8017 | likely_pathogenic | 0.7204 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| I/D | 0.9347 | likely_pathogenic | 0.88 | pathogenic | -0.585 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | I |
| I/E | 0.8536 | likely_pathogenic | 0.7591 | pathogenic | -0.602 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | I |
| I/F | 0.3559 | ambiguous | 0.2629 | benign | -1.067 | Destabilizing | 0.983 | D | 0.631 | neutral | N | 0.506493726 | None | None | I |
| I/G | 0.8417 | likely_pathogenic | 0.7569 | pathogenic | -1.764 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | I |
| I/H | 0.8564 | likely_pathogenic | 0.7451 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | I |
| I/K | 0.727 | likely_pathogenic | 0.5777 | pathogenic | -0.881 | Destabilizing | 0.946 | D | 0.752 | deleterious | None | None | None | None | I |
| I/L | 0.2014 | likely_benign | 0.1581 | benign | -0.776 | Destabilizing | 0.053 | N | 0.262 | neutral | N | 0.461990801 | None | None | I |
| I/M | 0.1682 | likely_benign | 0.1324 | benign | -0.682 | Destabilizing | 0.947 | D | 0.657 | neutral | N | 0.498298318 | None | None | I |
| I/N | 0.6885 | likely_pathogenic | 0.5187 | ambiguous | -0.711 | Destabilizing | 0.998 | D | 0.765 | deleterious | N | 0.46423876 | None | None | I |
| I/P | 0.7028 | likely_pathogenic | 0.6531 | pathogenic | -0.976 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | I |
| I/Q | 0.775 | likely_pathogenic | 0.6345 | pathogenic | -0.906 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | I |
| I/R | 0.6028 | likely_pathogenic | 0.4392 | ambiguous | -0.27 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | I |
| I/S | 0.5387 | ambiguous | 0.4182 | ambiguous | -1.377 | Destabilizing | 0.993 | D | 0.688 | prob.neutral | N | 0.495199297 | None | None | I |
| I/T | 0.2003 | likely_benign | 0.1556 | benign | -1.272 | Destabilizing | 0.863 | D | 0.585 | neutral | N | 0.475536101 | None | None | I |
| I/V | 0.0791 | likely_benign | 0.0693 | benign | -0.976 | Destabilizing | 0.005 | N | 0.238 | neutral | N | 0.434862915 | None | None | I |
| I/W | 0.9022 | likely_pathogenic | 0.8593 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| I/Y | 0.7966 | likely_pathogenic | 0.6916 | pathogenic | -0.834 | Destabilizing | 0.965 | D | 0.683 | prob.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.