Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14918 | 44977;44978;44979 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| N2AB | 13277 | 40054;40055;40056 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| N2A | 12350 | 37273;37274;37275 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| N2B | 5853 | 17782;17783;17784 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| Novex-1 | 5978 | 18157;18158;18159 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| Novex-2 | 6045 | 18358;18359;18360 | chr2:178624528;178624527;178624526 | chr2:179489255;179489254;179489253 |
| 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/V | None | None | 1.0 | D | 0.812 | 0.896 | 0.711987036522 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 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 | 0.9713 | likely_pathogenic | 0.9749 | pathogenic | 0.498 | Stabilizing | 1.0 | D | 0.815 | deleterious | D | 0.764960688 | None | None | N |
| D/C | 0.9949 | likely_pathogenic | 0.9955 | pathogenic | 0.411 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/E | 0.9271 | likely_pathogenic | 0.9402 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.548 | neutral | D | 0.801138906 | None | None | N |
| D/F | 0.9927 | likely_pathogenic | 0.9945 | pathogenic | 0.774 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/G | 0.965 | likely_pathogenic | 0.9633 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.763 | deleterious | D | 0.831951894 | None | None | N |
| D/H | 0.9679 | likely_pathogenic | 0.9723 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.79 | deleterious | D | 0.711385838 | None | None | N |
| D/I | 0.9906 | likely_pathogenic | 0.9917 | pathogenic | 1.807 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/K | 0.9912 | likely_pathogenic | 0.9939 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/L | 0.9905 | likely_pathogenic | 0.9908 | pathogenic | 1.807 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/M | 0.9934 | likely_pathogenic | 0.9947 | pathogenic | 2.274 | Highly Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/N | 0.8496 | likely_pathogenic | 0.854 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.746024264 | None | None | N |
| D/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | 1.4 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/Q | 0.9873 | likely_pathogenic | 0.9912 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/R | 0.9944 | likely_pathogenic | 0.9956 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/S | 0.9603 | likely_pathogenic | 0.9658 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/T | 0.9849 | likely_pathogenic | 0.9887 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/V | 0.9752 | likely_pathogenic | 0.9774 | pathogenic | 1.4 | Stabilizing | 1.0 | D | 0.812 | deleterious | D | 0.799155409 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | 0.391 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/Y | 0.9388 | likely_pathogenic | 0.9493 | pathogenic | 0.904 | Stabilizing | 1.0 | D | 0.804 | deleterious | D | 0.832014518 | 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.