Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20964 | 63115;63116;63117 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| N2AB | 19323 | 58192;58193;58194 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| N2A | 18396 | 55411;55412;55413 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| N2B | 11899 | 35920;35921;35922 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| Novex-1 | 12024 | 36295;36296;36297 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| Novex-2 | 12091 | 36496;36497;36498 | chr2:178588835;178588834;178588833 | chr2:179453562;179453561;179453560 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs548460016  |
-0.064 | 1.0 | D | 0.838 | 0.479 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/H | rs548460016 |
-0.064 | 1.0 | D | 0.838 | 0.479 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/H | rs548460016 |
-0.064 | 1.0 | D | 0.838 | 0.479 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| P/H | rs548460016 |
-0.064 | 1.0 | D | 0.838 | 0.479 | None | gnomAD-4.0.0 | 9.91724E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27163E-05 | 0 | 1.60092E-05 |
| P/S | None | None | 1.0 | D | 0.795 | 0.478 | 0.511331572721 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6376 | likely_pathogenic | 0.575 | pathogenic | -1.89 | Destabilizing | 0.999 | D | 0.797 | deleterious | D | 0.530073912 | None | None | I |
| P/C | 0.9689 | likely_pathogenic | 0.9642 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| P/D | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| P/E | 0.9965 | likely_pathogenic | 0.9961 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| P/F | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| P/G | 0.9848 | likely_pathogenic | 0.9801 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| P/H | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.54286225 | None | None | I |
| P/I | 0.9726 | likely_pathogenic | 0.9723 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| P/K | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| P/L | 0.9433 | likely_pathogenic | 0.9351 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.528806465 | None | None | I |
| P/M | 0.9887 | likely_pathogenic | 0.9868 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| P/N | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| P/Q | 0.9932 | likely_pathogenic | 0.9922 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| P/R | 0.9917 | likely_pathogenic | 0.9911 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.530580891 | None | None | I |
| P/S | 0.964 | likely_pathogenic | 0.955 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.541848291 | None | None | I |
| P/T | 0.9383 | likely_pathogenic | 0.9315 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.541594802 | None | None | I |
| P/V | 0.9187 | likely_pathogenic | 0.9166 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| P/Y | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
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.