Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5130 | 15613;15614;15615 | chr2:178734436;178734435;178734434 | chr2:179599163;179599162;179599161 |
| N2AB | 4813 | 14662;14663;14664 | chr2:178734436;178734435;178734434 | chr2:179599163;179599162;179599161 |
| N2A | 3886 | 11881;11882;11883 | chr2:178734436;178734435;178734434 | chr2:179599163;179599162;179599161 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs1348139013  |
-2.854 | 0.669 | N | 0.779 | 0.396 | 0.810562656005 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 1.65948E-04 |
| V/G | rs1348139013 |
-2.854 | 0.669 | N | 0.779 | 0.396 | 0.810562656005 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs1348139013 |
-2.854 | 0.669 | N | 0.779 | 0.396 | 0.810562656005 | gnomAD-4.0.0 | 3.71817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0857E-06 | 0 | 0 |
| V/L | None | None | 0.005 | N | 0.427 | 0.115 | 0.38225645794 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85863E-06 | 0 | 0 |
| V/M | rs765530283 |
-0.437 | 0.934 | N | 0.755 | 0.225 | 0.518641613453 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/M | rs765530283 |
-0.437 | 0.934 | N | 0.755 | 0.225 | 0.518641613453 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78927E-04 |
| V/M | rs765530283 |
-0.437 | 0.934 | N | 0.755 | 0.225 | 0.518641613453 | gnomAD-4.0.0 | 1.15306E-05 | None | None | None | None | N | None | 0 | 6.7792E-05 | None | 0 | 0 | None | 0 | 0 | 9.57272E-06 | 0 | 2.84463E-05 |
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 | 0.1346 | likely_benign | 0.1978 | benign | -1.901 | Destabilizing | 0.022 | N | 0.427 | neutral | N | 0.411584951 | None | None | N |
| V/C | 0.6025 | likely_pathogenic | 0.6998 | pathogenic | -1.341 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| V/D | 0.6713 | likely_pathogenic | 0.8319 | pathogenic | -2.544 | Highly Destabilizing | 0.949 | D | 0.78 | deleterious | None | None | None | None | N |
| V/E | 0.6335 | likely_pathogenic | 0.7828 | pathogenic | -2.32 | Highly Destabilizing | 0.801 | D | 0.777 | deleterious | D | 0.542619088 | None | None | N |
| V/F | 0.1317 | likely_benign | 0.1612 | benign | -1.172 | Destabilizing | 0.949 | D | 0.788 | deleterious | None | None | None | None | N |
| V/G | 0.2388 | likely_benign | 0.3696 | ambiguous | -2.444 | Highly Destabilizing | 0.669 | D | 0.779 | deleterious | N | 0.51050826 | None | None | N |
| V/H | 0.6508 | likely_pathogenic | 0.7689 | pathogenic | -2.35 | Highly Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| V/I | 0.0749 | likely_benign | 0.087 | benign | -0.385 | Destabilizing | 0.016 | N | 0.392 | neutral | None | None | None | None | N |
| V/K | 0.7297 | likely_pathogenic | 0.8445 | pathogenic | -1.514 | Destabilizing | 0.842 | D | 0.779 | deleterious | None | None | None | None | N |
| V/L | 0.1439 | likely_benign | 0.2008 | benign | -0.385 | Destabilizing | 0.005 | N | 0.427 | neutral | N | 0.450079081 | None | None | N |
| V/M | 0.1614 | likely_benign | 0.2457 | benign | -0.379 | Destabilizing | 0.934 | D | 0.755 | deleterious | N | 0.511086878 | None | None | N |
| V/N | 0.4216 | ambiguous | 0.615 | pathogenic | -1.846 | Destabilizing | 0.949 | D | 0.776 | deleterious | None | None | None | None | N |
| V/P | 0.7394 | likely_pathogenic | 0.8722 | pathogenic | -0.863 | Destabilizing | 0.974 | D | 0.775 | deleterious | None | None | None | None | N |
| V/Q | 0.5639 | ambiguous | 0.7011 | pathogenic | -1.667 | Destabilizing | 0.974 | D | 0.773 | deleterious | None | None | None | None | N |
| V/R | 0.6352 | likely_pathogenic | 0.7466 | pathogenic | -1.428 | Destabilizing | 0.974 | D | 0.783 | deleterious | None | None | None | None | N |
| V/S | 0.2167 | likely_benign | 0.335 | benign | -2.439 | Highly Destabilizing | 0.08 | N | 0.61 | neutral | None | None | None | None | N |
| V/T | 0.2086 | likely_benign | 0.2975 | benign | -2.07 | Highly Destabilizing | 0.525 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/W | 0.8036 | likely_pathogenic | 0.8704 | pathogenic | -1.77 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| V/Y | 0.5035 | ambiguous | 0.5994 | pathogenic | -1.335 | Destabilizing | 0.991 | D | 0.783 | 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.