Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20543 | 61852;61853;61854 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| N2AB | 18902 | 56929;56930;56931 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| N2A | 17975 | 54148;54149;54150 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| N2B | 11478 | 34657;34658;34659 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| Novex-1 | 11603 | 35032;35033;35034 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| Novex-2 | 11670 | 35233;35234;35235 | chr2:178590098;178590097;178590096 | chr2:179454825;179454824;179454823 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.773 | 0.683 | 0.603979500719 | gnomAD-4.0.0 | 1.36888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87301E-05 | 0 | 8.99682E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9928 | likely_pathogenic | 0.9941 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.834 | deleterious | D | 0.624602824 | None | None | N |
| D/C | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | 0.455 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/E | 0.9634 | likely_pathogenic | 0.97 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.576 | neutral | D | 0.64893011 | None | None | N |
| D/F | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | 1.156 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/G | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.775 | deleterious | D | 0.65034274 | None | None | N |
| D/H | 0.968 | likely_pathogenic | 0.975 | pathogenic | 0.793 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.581127313 | None | None | N |
| D/I | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | 1.788 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/K | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/L | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | 1.788 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/M | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 2.164 | Highly Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| D/N | 0.9289 | likely_pathogenic | 0.9425 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.600236254 | None | None | N |
| D/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | 1.392 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/Q | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| D/R | 0.998 | likely_pathogenic | 0.9984 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/S | 0.9747 | likely_pathogenic | 0.9805 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/T | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/V | 0.9953 | likely_pathogenic | 0.996 | pathogenic | 1.392 | Stabilizing | 1.0 | D | 0.834 | deleterious | D | 0.650746348 | None | None | N |
| D/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 1.134 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Y | 0.9879 | likely_pathogenic | 0.9894 | pathogenic | 1.417 | Stabilizing | 1.0 | D | 0.844 | deleterious | D | 0.625006432 | 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.