Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27735 | 83428;83429;83430 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| N2AB | 26094 | 78505;78506;78507 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| N2A | 25167 | 75724;75725;75726 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| N2B | 18670 | 56233;56234;56235 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| Novex-1 | 18795 | 56608;56609;56610 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| Novex-2 | 18862 | 56809;56810;56811 | chr2:178562929;178562928;178562927 | chr2:179427656;179427655;179427654 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 1.0 | N | 0.76 | 0.447 | 0.532168211543 | gnomAD-4.0.0 | 6.8429E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99502E-07 | 0 | 0 |
| N/K | None | None | 1.0 | N | 0.721 | 0.324 | 0.143124449307 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/T | None | None | 0.999 | N | 0.708 | 0.425 | 0.314417295294 | gnomAD-4.0.0 | 6.8429E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99502E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3088 | likely_benign | 0.3465 | ambiguous | -0.459 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| N/C | 0.3711 | ambiguous | 0.4195 | ambiguous | 0.376 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/D | 0.1501 | likely_benign | 0.1764 | benign | -0.251 | Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.490379763 | None | None | N |
| N/E | 0.4743 | ambiguous | 0.5114 | ambiguous | -0.279 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| N/F | 0.7392 | likely_pathogenic | 0.7698 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/G | 0.2856 | likely_benign | 0.3157 | benign | -0.646 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | N |
| N/H | 0.125 | likely_benign | 0.1349 | benign | -0.722 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.488234229 | None | None | N |
| N/I | 0.5951 | likely_pathogenic | 0.6232 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.497641978 | None | None | N |
| N/K | 0.3687 | ambiguous | 0.411 | ambiguous | 0.122 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.486224737 | None | None | N |
| N/L | 0.4868 | ambiguous | 0.5096 | ambiguous | -0.048 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/M | 0.5344 | ambiguous | 0.5625 | ambiguous | 0.57 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/P | 0.8939 | likely_pathogenic | 0.901 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/Q | 0.4008 | ambiguous | 0.4308 | ambiguous | -0.493 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/R | 0.3951 | ambiguous | 0.4399 | ambiguous | 0.246 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/S | 0.1015 | likely_benign | 0.1051 | benign | -0.183 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.515680852 | None | None | N |
| N/T | 0.224 | likely_benign | 0.2401 | benign | -0.067 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | N | 0.478523765 | None | None | N |
| N/V | 0.515 | ambiguous | 0.5465 | ambiguous | -0.158 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/W | 0.8928 | likely_pathogenic | 0.9124 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/Y | 0.2985 | likely_benign | 0.3301 | benign | -0.457 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.497134999 | 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.