Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23328 | 70207;70208;70209 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| N2AB | 21687 | 65284;65285;65286 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| N2A | 20760 | 62503;62504;62505 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| N2B | 14263 | 43012;43013;43014 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| Novex-1 | 14388 | 43387;43388;43389 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| Novex-2 | 14455 | 43588;43589;43590 | chr2:178576150;178576149;178576148 | chr2:179440877;179440876;179440875 |
| 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/V | rs1466750954  |
-0.262 | 0.999 | N | 0.67 | 0.382 | 0.583302769791 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| A/V | rs1466750954 |
-0.262 | 0.999 | N | 0.67 | 0.382 | 0.583302769791 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1466750954 |
-0.262 | 0.999 | N | 0.67 | 0.382 | 0.583302769791 | gnomAD-4.0.0 | 5.70335E-05 | None | None | None | None | I | None | 2.6713E-05 | 1.66789E-05 | None | 0 | 0 | None | 0 | 0 | 7.4608E-05 | 0 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5135 | ambiguous | 0.5107 | ambiguous | -0.872 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/D | 0.7443 | likely_pathogenic | 0.7028 | pathogenic | -1.423 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | I |
| A/E | 0.6762 | likely_pathogenic | 0.6311 | pathogenic | -1.425 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | N | 0.498833061 | None | None | I |
| A/F | 0.7016 | likely_pathogenic | 0.6714 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| A/G | 0.2362 | likely_benign | 0.2133 | benign | -1.239 | Destabilizing | 0.997 | D | 0.629 | neutral | D | 0.52459199 | None | None | I |
| A/H | 0.8113 | likely_pathogenic | 0.7917 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| A/I | 0.4754 | ambiguous | 0.4401 | ambiguous | -0.304 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| A/K | 0.834 | likely_pathogenic | 0.8058 | pathogenic | -1.395 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/L | 0.4585 | ambiguous | 0.423 | ambiguous | -0.304 | Destabilizing | 0.997 | D | 0.702 | prob.neutral | None | None | None | None | I |
| A/M | 0.407 | ambiguous | 0.3799 | ambiguous | -0.251 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| A/N | 0.6301 | likely_pathogenic | 0.6103 | pathogenic | -1.135 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | I |
| A/P | 0.9604 | likely_pathogenic | 0.9546 | pathogenic | -0.478 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.511203324 | None | None | I |
| A/Q | 0.684 | likely_pathogenic | 0.6542 | pathogenic | -1.246 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | I |
| A/R | 0.7534 | likely_pathogenic | 0.7202 | pathogenic | -1.081 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | I |
| A/S | 0.1274 | likely_benign | 0.1248 | benign | -1.463 | Destabilizing | 0.916 | D | 0.431 | neutral | N | 0.393622086 | None | None | I |
| A/T | 0.1354 | likely_benign | 0.1302 | benign | -1.375 | Destabilizing | 0.984 | D | 0.655 | neutral | N | 0.520338176 | None | None | I |
| A/V | 0.2102 | likely_benign | 0.1863 | benign | -0.478 | Destabilizing | 0.999 | D | 0.67 | neutral | N | 0.509987896 | None | None | I |
| A/W | 0.9501 | likely_pathogenic | 0.9456 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| A/Y | 0.8258 | likely_pathogenic | 0.8065 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.844 | deleterious | 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.