Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2145 | 6658;6659;6660 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| N2AB | 2145 | 6658;6659;6660 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| N2A | 2145 | 6658;6659;6660 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| N2B | 2099 | 6520;6521;6522 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| Novex-1 | 2099 | 6520;6521;6522 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| Novex-2 | 2099 | 6520;6521;6522 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
| Novex-3 | 2145 | 6658;6659;6660 | chr2:178775431;178775430;178775429 | chr2:179640158;179640157;179640156 |
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 | 0.78 | 0.838 | 0.634202473982 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9853 | likely_pathogenic | 0.9866 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.822868705 | None | None | N |
| D/C | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/E | 0.9356 | likely_pathogenic | 0.939 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.770772076 | None | None | N |
| D/F | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/G | 0.9866 | likely_pathogenic | 0.9877 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.822072947 | None | None | N |
| D/H | 0.9783 | likely_pathogenic | 0.9801 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.664325647 | None | None | N |
| D/I | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | 0.887 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| D/K | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9939 | likely_pathogenic | 0.9945 | pathogenic | 0.887 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/M | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | 1.331 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.8674 | likely_pathogenic | 0.8818 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.756265633 | None | None | N |
| D/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 0.558 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Q | 0.9934 | likely_pathogenic | 0.994 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/R | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.053 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/S | 0.9719 | likely_pathogenic | 0.9738 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/T | 0.992 | likely_pathogenic | 0.9928 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/V | 0.9878 | likely_pathogenic | 0.9883 | pathogenic | 0.558 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.822032557 | None | None | N |
| D/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/Y | 0.9658 | likely_pathogenic | 0.9673 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.866 | deleterious | D | 0.754053687 | 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.