Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32344 | 97255;97256;97257 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| N2AB | 30703 | 92332;92333;92334 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| N2A | 29776 | 89551;89552;89553 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| N2B | 23279 | 70060;70061;70062 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| Novex-1 | 23404 | 70435;70436;70437 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| Novex-2 | 23471 | 70636;70637;70638 | chr2:178542824;178542823;178542822 | chr2:179407551;179407550;179407549 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs778602950  |
-0.512 | 1.0 | N | 0.705 | 0.493 | 0.322510055762 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/S | rs778602950 |
-0.512 | 1.0 | N | 0.705 | 0.493 | 0.322510055762 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.22148E-04 | 0 |
| G/S | rs778602950 |
-0.512 | 1.0 | N | 0.705 | 0.493 | 0.322510055762 | gnomAD-4.0.0 | 1.48734E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54289E-06 | 1.97641E-04 | 4.80323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2825 | likely_benign | 0.2034 | benign | -0.247 | Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.472049893 | None | None | N |
| G/C | 0.4519 | ambiguous | 0.3384 | benign | -0.934 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.495941046 | None | None | N |
| G/D | 0.1907 | likely_benign | 0.1542 | benign | -0.148 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.46064122 | None | None | N |
| G/E | 0.29 | likely_benign | 0.2171 | benign | -0.286 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/F | 0.8428 | likely_pathogenic | 0.7299 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/H | 0.4694 | ambiguous | 0.3576 | ambiguous | -0.32 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/I | 0.7093 | likely_pathogenic | 0.5486 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/K | 0.4819 | ambiguous | 0.3719 | ambiguous | -0.616 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/L | 0.7616 | likely_pathogenic | 0.6232 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/M | 0.7553 | likely_pathogenic | 0.6265 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/N | 0.2322 | likely_benign | 0.1969 | benign | -0.369 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/P | 0.9379 | likely_pathogenic | 0.8976 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/Q | 0.3694 | ambiguous | 0.2856 | benign | -0.564 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/R | 0.404 | ambiguous | 0.2977 | benign | -0.26 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.518574802 | None | None | N |
| G/S | 0.1386 | likely_benign | 0.1154 | benign | -0.584 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.463945591 | None | None | N |
| G/T | 0.3004 | likely_benign | 0.2299 | benign | -0.635 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/V | 0.5603 | ambiguous | 0.3996 | ambiguous | -0.304 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.495941046 | None | None | N |
| G/W | 0.7385 | likely_pathogenic | 0.5957 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/Y | 0.6997 | likely_pathogenic | 0.546 | ambiguous | -0.665 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | 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.