Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24983 | 75172;75173;75174 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| N2AB | 23342 | 70249;70250;70251 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| N2A | 22415 | 67468;67469;67470 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| N2B | 15918 | 47977;47978;47979 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| Novex-1 | 16043 | 48352;48353;48354 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| Novex-2 | 16110 | 48553;48554;48555 | chr2:178571185;178571184;178571183 | chr2:179435912;179435911;179435910 |
| 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 | rs530334283  |
-2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 3.23081E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs530334283 |
-2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.26E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs530334283 |
-2.495 | 0.543 | D | 0.326 | 0.725 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs530334283 |
-2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-4.0.0 | 4.95895E-06 | None | None | None | None | N | None | 9.34455E-05 | 1.6675E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.666 | likely_pathogenic | 0.7042 | pathogenic | -2.487 | Highly Destabilizing | 0.543 | D | 0.326 | neutral | D | 0.546883581 | None | None | N |
| V/C | 0.9302 | likely_pathogenic | 0.9398 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/D | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -3.36 | Highly Destabilizing | 0.998 | D | 0.856 | deleterious | D | 0.648521167 | None | None | N |
| V/E | 0.9951 | likely_pathogenic | 0.9955 | pathogenic | -3.065 | Highly Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| V/F | 0.9553 | likely_pathogenic | 0.9601 | pathogenic | -1.217 | Destabilizing | 0.999 | D | 0.748 | deleterious | D | 0.581117081 | None | None | N |
| V/G | 0.8917 | likely_pathogenic | 0.9207 | pathogenic | -3.052 | Highly Destabilizing | 0.997 | D | 0.779 | deleterious | D | 0.648521167 | None | None | N |
| V/H | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.1394 | likely_benign | 0.1221 | benign | -0.841 | Destabilizing | 0.987 | D | 0.564 | neutral | N | 0.504311379 | None | None | N |
| V/K | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -1.864 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| V/L | 0.8093 | likely_pathogenic | 0.8069 | pathogenic | -0.841 | Destabilizing | 0.973 | D | 0.645 | neutral | N | 0.505960902 | None | None | N |
| V/M | 0.8574 | likely_pathogenic | 0.8614 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/N | 0.9908 | likely_pathogenic | 0.9917 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9965 | likely_pathogenic | 0.997 | pathogenic | -1.373 | Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Q | 0.9946 | likely_pathogenic | 0.9953 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.9941 | likely_pathogenic | 0.9944 | pathogenic | -1.9 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| V/S | 0.9175 | likely_pathogenic | 0.9435 | pathogenic | -2.984 | Highly Destabilizing | 0.995 | D | 0.771 | deleterious | None | None | None | None | N |
| V/T | 0.7984 | likely_pathogenic | 0.8369 | pathogenic | -2.544 | Highly Destabilizing | 0.992 | D | 0.633 | neutral | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/Y | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.749 | 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.