Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33317 | 100174;100175;100176 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| N2AB | 31676 | 95251;95252;95253 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| N2A | 30749 | 92470;92471;92472 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| N2B | 24252 | 72979;72980;72981 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| Novex-1 | 24377 | 73354;73355;73356 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| Novex-2 | 24444 | 73555;73556;73557 | chr2:178537160;178537159;178537158 | chr2:179401887;179401886;179401885 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs1318907026  |
-0.189 | 1.0 | N | 0.687 | 0.555 | 0.637732811552 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs1318907026 |
-0.189 | 1.0 | N | 0.687 | 0.555 | 0.637732811552 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1318907026 |
-0.189 | 1.0 | N | 0.687 | 0.555 | 0.637732811552 | gnomAD-4.0.0 | 2.56257E-06 | None | None | None | None | I | None | 3.38249E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6197 | likely_pathogenic | 0.52 | ambiguous | -0.141 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.488116687 | None | None | I |
| D/C | 0.9175 | likely_pathogenic | 0.876 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/E | 0.5381 | ambiguous | 0.5155 | ambiguous | -0.286 | Destabilizing | 1.0 | D | 0.421 | neutral | N | 0.46423876 | None | None | I |
| D/F | 0.8923 | likely_pathogenic | 0.8707 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| D/G | 0.6287 | likely_pathogenic | 0.5364 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.492902853 | None | None | I |
| D/H | 0.7802 | likely_pathogenic | 0.7008 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.482369468 | None | None | I |
| D/I | 0.83 | likely_pathogenic | 0.7682 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| D/K | 0.8394 | likely_pathogenic | 0.7556 | pathogenic | 0.494 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| D/L | 0.8471 | likely_pathogenic | 0.8055 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| D/M | 0.935 | likely_pathogenic | 0.9189 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| D/N | 0.22 | likely_benign | 0.1879 | benign | 0.313 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.472290156 | None | None | I |
| D/P | 0.9899 | likely_pathogenic | 0.9854 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| D/Q | 0.8277 | likely_pathogenic | 0.7744 | pathogenic | 0.32 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| D/R | 0.8634 | likely_pathogenic | 0.7791 | pathogenic | 0.505 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/S | 0.4098 | ambiguous | 0.3356 | benign | 0.217 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/T | 0.6491 | likely_pathogenic | 0.5787 | pathogenic | 0.347 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| D/V | 0.6434 | likely_pathogenic | 0.5423 | ambiguous | 0.141 | Stabilizing | 1.0 | D | 0.767 | deleterious | N | 0.496016725 | None | None | I |
| D/W | 0.9837 | likely_pathogenic | 0.981 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| D/Y | 0.6243 | likely_pathogenic | 0.5588 | ambiguous | -0.098 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.468215233 | 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.