Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31918 | 95977;95978;95979 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| N2AB | 30277 | 91054;91055;91056 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| N2A | 29350 | 88273;88274;88275 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| N2B | 22853 | 68782;68783;68784 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| Novex-1 | 22978 | 69157;69158;69159 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| Novex-2 | 23045 | 69358;69359;69360 | chr2:178544477;178544476;178544475 | chr2:179409204;179409203;179409202 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1426827889  |
None | 0.656 | N | 0.547 | 0.284 | 0.559697257647 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1426827889 |
None | 0.656 | N | 0.547 | 0.284 | 0.559697257647 | gnomAD-4.0.0 | 2.58001E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41966E-06 | 0 | 2.86352E-05 |
| V/F | rs1224201899 |
-1.134 | 0.942 | N | 0.673 | 0.365 | 0.659426975773 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| V/F | rs1224201899 |
-1.134 | 0.942 | N | 0.673 | 0.365 | 0.659426975773 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| V/F | rs1224201899 |
-1.134 | 0.942 | N | 0.673 | 0.365 | 0.659426975773 | gnomAD-4.0.0 | 1.24437E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19887E-05 | 0 |
| V/I | None | None | 0.006 | N | 0.175 | 0.123 | 0.415055319159 | gnomAD-4.0.0 | 6.87257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.664E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2514 | likely_benign | 0.2502 | benign | -1.624 | Destabilizing | 0.656 | D | 0.547 | neutral | N | 0.495412728 | None | None | N |
| V/C | 0.7993 | likely_pathogenic | 0.7998 | pathogenic | -1.263 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
| V/D | 0.8835 | likely_pathogenic | 0.8665 | pathogenic | -1.211 | Destabilizing | 0.99 | D | 0.777 | deleterious | N | 0.499306224 | None | None | N |
| V/E | 0.7483 | likely_pathogenic | 0.7398 | pathogenic | -1.127 | Destabilizing | 0.993 | D | 0.751 | deleterious | None | None | None | None | N |
| V/F | 0.4092 | ambiguous | 0.4303 | ambiguous | -1.062 | Destabilizing | 0.942 | D | 0.673 | neutral | N | 0.484121123 | None | None | N |
| V/G | 0.5917 | likely_pathogenic | 0.5756 | pathogenic | -2.037 | Highly Destabilizing | 0.97 | D | 0.749 | deleterious | N | 0.493025574 | None | None | N |
| V/H | 0.8967 | likely_pathogenic | 0.8966 | pathogenic | -1.454 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | N |
| V/I | 0.0669 | likely_benign | 0.0698 | benign | -0.555 | Destabilizing | 0.006 | N | 0.175 | neutral | N | 0.49499144 | None | None | N |
| V/K | 0.7596 | likely_pathogenic | 0.7688 | pathogenic | -1.296 | Destabilizing | 0.978 | D | 0.755 | deleterious | None | None | None | None | N |
| V/L | 0.2703 | likely_benign | 0.3167 | benign | -0.555 | Destabilizing | 0.125 | N | 0.385 | neutral | N | 0.505669794 | None | None | N |
| V/M | 0.2362 | likely_benign | 0.2484 | benign | -0.545 | Destabilizing | 0.956 | D | 0.583 | neutral | None | None | None | None | N |
| V/N | 0.7446 | likely_pathogenic | 0.7504 | pathogenic | -1.267 | Destabilizing | 0.993 | D | 0.778 | deleterious | None | None | None | None | N |
| V/P | 0.5333 | ambiguous | 0.5496 | ambiguous | -0.877 | Destabilizing | 0.993 | D | 0.758 | deleterious | None | None | None | None | N |
| V/Q | 0.7421 | likely_pathogenic | 0.7412 | pathogenic | -1.294 | Destabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | N |
| V/R | 0.722 | likely_pathogenic | 0.7212 | pathogenic | -0.899 | Destabilizing | 0.993 | D | 0.781 | deleterious | None | None | None | None | N |
| V/S | 0.5742 | likely_pathogenic | 0.5607 | ambiguous | -1.935 | Destabilizing | 0.978 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/T | 0.3384 | likely_benign | 0.3309 | benign | -1.708 | Destabilizing | 0.86 | D | 0.585 | neutral | None | None | None | None | N |
| V/W | 0.9269 | likely_pathogenic | 0.9266 | pathogenic | -1.288 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/Y | 0.8068 | likely_pathogenic | 0.8167 | pathogenic | -0.968 | Destabilizing | 0.978 | D | 0.696 | 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.