Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29944 | 90055;90056;90057 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| N2AB | 28303 | 85132;85133;85134 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| N2A | 27376 | 82351;82352;82353 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| N2B | 20879 | 62860;62861;62862 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| Novex-1 | 21004 | 63235;63236;63237 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| Novex-2 | 21071 | 63436;63437;63438 | chr2:178553070;178553069;178553068 | chr2:179417797;179417796;179417795 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Y | rs560541272  |
1.302 | 0.961 | N | 0.38 | 0.181 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| H/Y | rs560541272 |
1.302 | 0.961 | N | 0.38 | 0.181 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
| H/Y | rs560541272 |
1.302 | 0.961 | N | 0.38 | 0.181 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| H/Y | rs560541272 |
1.302 | 0.961 | N | 0.38 | 0.181 | None | gnomAD-4.0.0 | 1.05442E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18741E-05 | 0 | 4.804E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1767 | likely_benign | 0.1852 | benign | 0.348 | Stabilizing | 0.842 | D | 0.356 | neutral | None | None | None | None | N |
| H/C | 0.2058 | likely_benign | 0.1825 | benign | 0.604 | Stabilizing | 0.998 | D | 0.342 | neutral | None | None | None | None | N |
| H/D | 0.1209 | likely_benign | 0.1169 | benign | -0.051 | Destabilizing | 0.454 | N | 0.331 | neutral | N | 0.309242902 | None | None | N |
| H/E | 0.1931 | likely_benign | 0.1886 | benign | -0.04 | Destabilizing | 0.688 | D | 0.343 | neutral | None | None | None | None | N |
| H/F | 0.2535 | likely_benign | 0.2505 | benign | 0.912 | Stabilizing | 0.991 | D | 0.358 | neutral | None | None | None | None | N |
| H/G | 0.2214 | likely_benign | 0.2216 | benign | 0.1 | Stabilizing | 0.525 | D | 0.327 | neutral | None | None | None | None | N |
| H/I | 0.289 | likely_benign | 0.2748 | benign | 0.968 | Stabilizing | 0.974 | D | 0.364 | neutral | None | None | None | None | N |
| H/K | 0.2464 | likely_benign | 0.2446 | benign | 0.253 | Stabilizing | 0.842 | D | 0.328 | neutral | None | None | None | None | N |
| H/L | 0.119 | likely_benign | 0.1162 | benign | 0.968 | Stabilizing | 0.891 | D | 0.375 | neutral | N | 0.446079986 | None | None | N |
| H/M | 0.3353 | likely_benign | 0.3392 | benign | 0.689 | Stabilizing | 0.998 | D | 0.327 | neutral | None | None | None | None | N |
| H/N | 0.0533 | likely_benign | 0.0552 | benign | 0.204 | Stabilizing | 0.002 | N | 0.096 | neutral | N | 0.377217333 | None | None | N |
| H/P | 0.3976 | ambiguous | 0.3553 | ambiguous | 0.786 | Stabilizing | 0.989 | D | 0.33 | neutral | N | 0.482211357 | None | None | N |
| H/Q | 0.1319 | likely_benign | 0.1268 | benign | 0.28 | Stabilizing | 0.891 | D | 0.365 | neutral | N | 0.432187969 | None | None | N |
| H/R | 0.1488 | likely_benign | 0.1381 | benign | -0.258 | Destabilizing | 0.801 | D | 0.316 | neutral | N | 0.441980888 | None | None | N |
| H/S | 0.1405 | likely_benign | 0.1472 | benign | 0.294 | Stabilizing | 0.525 | D | 0.325 | neutral | None | None | None | None | N |
| H/T | 0.1631 | likely_benign | 0.1707 | benign | 0.402 | Stabilizing | 0.842 | D | 0.358 | neutral | None | None | None | None | N |
| H/V | 0.2153 | likely_benign | 0.2135 | benign | 0.786 | Stabilizing | 0.974 | D | 0.342 | neutral | None | None | None | None | N |
| H/W | 0.4389 | ambiguous | 0.4151 | ambiguous | 0.852 | Stabilizing | 0.998 | D | 0.392 | neutral | None | None | None | None | N |
| H/Y | 0.0927 | likely_benign | 0.087 | benign | 1.137 | Stabilizing | 0.961 | D | 0.38 | neutral | N | 0.464665747 | 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.