Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25015 | 75268;75269;75270 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| N2AB | 23374 | 70345;70346;70347 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| N2A | 22447 | 67564;67565;67566 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| N2B | 15950 | 48073;48074;48075 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| Novex-1 | 16075 | 48448;48449;48450 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| Novex-2 | 16142 | 48649;48650;48651 | chr2:178571089;178571088;178571087 | chr2:179435816;179435815;179435814 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1218287371  |
-1.068 | 0.004 | N | 0.373 | 0.134 | 0.215869574891 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1218287371 |
-1.068 | 0.004 | N | 0.373 | 0.134 | 0.215869574891 | gnomAD-4.0.0 | 2.05321E-06 | None | None | None | None | N | None | 2.98954E-05 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-05 | 0 |
| A/V | rs397517699 |
-0.078 | 0.201 | N | 0.639 | 0.277 | 0.348101942276 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs397517699 |
-0.078 | 0.201 | N | 0.639 | 0.277 | 0.348101942276 | gnomAD-4.0.0 | 4.77701E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 5.72046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6802 | likely_pathogenic | 0.642 | pathogenic | -0.863 | Destabilizing | 0.982 | D | 0.671 | neutral | None | None | None | None | N |
| A/D | 0.8176 | likely_pathogenic | 0.7442 | pathogenic | -0.927 | Destabilizing | 0.7 | D | 0.811 | deleterious | None | None | None | None | N |
| A/E | 0.7212 | likely_pathogenic | 0.6374 | pathogenic | -0.96 | Destabilizing | 0.638 | D | 0.776 | deleterious | N | 0.519004451 | None | None | N |
| A/F | 0.7632 | likely_pathogenic | 0.7311 | pathogenic | -0.832 | Destabilizing | 0.826 | D | 0.835 | deleterious | None | None | None | None | N |
| A/G | 0.3097 | likely_benign | 0.2697 | benign | -0.978 | Destabilizing | 0.334 | N | 0.582 | neutral | N | 0.499455898 | None | None | N |
| A/H | 0.8793 | likely_pathogenic | 0.8274 | pathogenic | -1.102 | Destabilizing | 0.982 | D | 0.807 | deleterious | None | None | None | None | N |
| A/I | 0.4291 | ambiguous | 0.4062 | ambiguous | -0.212 | Destabilizing | 0.7 | D | 0.794 | deleterious | None | None | None | None | N |
| A/K | 0.8916 | likely_pathogenic | 0.8412 | pathogenic | -1.164 | Destabilizing | 0.7 | D | 0.777 | deleterious | None | None | None | None | N |
| A/L | 0.4709 | ambiguous | 0.4287 | ambiguous | -0.212 | Destabilizing | 0.25 | N | 0.744 | deleterious | None | None | None | None | N |
| A/M | 0.514 | ambiguous | 0.4925 | ambiguous | -0.267 | Destabilizing | 0.982 | D | 0.757 | deleterious | None | None | None | None | N |
| A/N | 0.6727 | likely_pathogenic | 0.607 | pathogenic | -0.889 | Destabilizing | 0.7 | D | 0.841 | deleterious | None | None | None | None | N |
| A/P | 0.1332 | likely_benign | 0.0863 | benign | -0.342 | Destabilizing | 0.002 | N | 0.355 | neutral | N | 0.474476792 | None | None | N |
| A/Q | 0.7883 | likely_pathogenic | 0.71 | pathogenic | -1.021 | Destabilizing | 0.826 | D | 0.8 | deleterious | None | None | None | None | N |
| A/R | 0.8702 | likely_pathogenic | 0.8133 | pathogenic | -0.817 | Destabilizing | 0.7 | D | 0.798 | deleterious | None | None | None | None | N |
| A/S | 0.2243 | likely_benign | 0.2005 | benign | -1.227 | Destabilizing | 0.201 | N | 0.576 | neutral | N | 0.508787457 | None | None | N |
| A/T | 0.2312 | likely_benign | 0.2059 | benign | -1.157 | Destabilizing | 0.004 | N | 0.373 | neutral | N | 0.482857356 | None | None | N |
| A/V | 0.1914 | likely_benign | 0.1804 | benign | -0.342 | Destabilizing | 0.201 | N | 0.639 | neutral | N | 0.425299282 | None | None | N |
| A/W | 0.9489 | likely_pathogenic | 0.9321 | pathogenic | -1.171 | Destabilizing | 0.982 | D | 0.769 | deleterious | None | None | None | None | N |
| A/Y | 0.8053 | likely_pathogenic | 0.7657 | pathogenic | -0.758 | Destabilizing | 0.935 | D | 0.837 | deleterious | 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.