Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14600 | 44023;44024;44025 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| N2AB | 12959 | 39100;39101;39102 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| N2A | 12032 | 36319;36320;36321 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| N2B | 5535 | 16828;16829;16830 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| Novex-1 | 5660 | 17203;17204;17205 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| Novex-2 | 5727 | 17404;17405;17406 | chr2:178631250;178631249;178631248 | chr2:179495977;179495976;179495975 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs543588487  |
0.19 | 0.999 | D | 0.723 | 0.432 | 0.430579932962 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 1.6592E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs543588487 |
0.19 | 0.999 | D | 0.723 | 0.432 | 0.430579932962 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs543588487 |
0.19 | 0.999 | D | 0.723 | 0.432 | 0.430579932962 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/E | rs543588487 |
0.19 | 0.999 | D | 0.723 | 0.432 | 0.430579932962 | gnomAD-4.0.0 | 6.41722E-06 | None | None | None | None | N | None | 8.44423E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs769967388 |
None | 1.0 | N | 0.739 | 0.335 | 0.237489013734 | gnomAD-4.0.0 | 2.05463E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69944E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6939 | likely_pathogenic | 0.6567 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| K/C | 0.9379 | likely_pathogenic | 0.9228 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| K/D | 0.7264 | likely_pathogenic | 0.6796 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| K/E | 0.3516 | ambiguous | 0.3275 | benign | 0.037 | Stabilizing | 0.999 | D | 0.723 | prob.delet. | D | 0.533984339 | None | None | N |
| K/F | 0.9385 | likely_pathogenic | 0.9347 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/G | 0.5096 | ambiguous | 0.4787 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| K/H | 0.5894 | likely_pathogenic | 0.5496 | ambiguous | -0.546 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/I | 0.8247 | likely_pathogenic | 0.8106 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.667857086 | None | None | N |
| K/L | 0.6863 | likely_pathogenic | 0.6791 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| K/M | 0.4566 | ambiguous | 0.4547 | ambiguous | 0.312 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/N | 0.4729 | ambiguous | 0.438 | ambiguous | 0.105 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.507062574 | None | None | N |
| K/P | 0.9677 | likely_pathogenic | 0.957 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/Q | 0.2993 | likely_benign | 0.2762 | benign | -0.031 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.642663613 | None | None | N |
| K/R | 0.1398 | likely_benign | 0.1266 | benign | -0.164 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | N | 0.503232209 | None | None | N |
| K/S | 0.6973 | likely_pathogenic | 0.647 | pathogenic | -0.382 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/T | 0.5018 | ambiguous | 0.4476 | ambiguous | -0.183 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.558027447 | None | None | N |
| K/V | 0.8043 | likely_pathogenic | 0.7849 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/W | 0.9322 | likely_pathogenic | 0.9158 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/Y | 0.8373 | likely_pathogenic | 0.8214 | pathogenic | 0.312 | Stabilizing | 1.0 | D | 0.758 | 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.