Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21684 | 65275;65276;65277 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| N2AB | 20043 | 60352;60353;60354 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| N2A | 19116 | 57571;57572;57573 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| N2B | 12619 | 38080;38081;38082 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| Novex-1 | 12744 | 38455;38456;38457 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| Novex-2 | 12811 | 38656;38657;38658 | chr2:178584501;178584500;178584499 | chr2:179449228;179449227;179449226 |
| 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/A | rs1305056270  |
0.104 | 0.064 | N | 0.189 | 0.181 | 0.251639045875 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs1305056270 |
0.104 | 0.064 | N | 0.189 | 0.181 | 0.251639045875 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | I | None | 0 | 2.2877E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | None | None | 0.679 | N | 0.329 | 0.122 | 0.315903272564 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| D/G | rs1305056270 |
0.002 | 0.679 | N | 0.317 | 0.188 | 0.230578612272 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1305056270 |
0.002 | 0.679 | N | 0.317 | 0.188 | 0.230578612272 | gnomAD-4.0.0 | 1.27397E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22866E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 0.064 | N | 0.268 | 0.227 | 0.389126455913 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| D/Y | None | None | 0.991 | N | 0.294 | 0.31 | 0.486282253068 | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 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 | 0.0844 | likely_benign | 0.0898 | benign | -0.032 | Destabilizing | 0.064 | N | 0.189 | neutral | N | 0.372120945 | None | None | I |
| D/C | 0.4419 | ambiguous | 0.46 | ambiguous | 0.155 | Stabilizing | 0.998 | D | 0.255 | neutral | None | None | None | None | I |
| D/E | 0.1044 | likely_benign | 0.1037 | benign | -0.228 | Destabilizing | 0.679 | D | 0.329 | neutral | N | 0.36459754 | None | None | I |
| D/F | 0.4385 | ambiguous | 0.4633 | ambiguous | -0.142 | Destabilizing | 0.98 | D | 0.301 | neutral | None | None | None | None | I |
| D/G | 0.1291 | likely_benign | 0.1372 | benign | -0.153 | Destabilizing | 0.679 | D | 0.317 | neutral | N | 0.440386164 | None | None | I |
| D/H | 0.1936 | likely_benign | 0.2075 | benign | 0.228 | Stabilizing | 0.973 | D | 0.277 | neutral | N | 0.475941533 | None | None | I |
| D/I | 0.1684 | likely_benign | 0.1791 | benign | 0.222 | Stabilizing | 0.773 | D | 0.375 | neutral | None | None | None | None | I |
| D/K | 0.2163 | likely_benign | 0.229 | benign | 0.621 | Stabilizing | 0.872 | D | 0.345 | neutral | None | None | None | None | I |
| D/L | 0.1949 | likely_benign | 0.2049 | benign | 0.222 | Stabilizing | 0.773 | D | 0.347 | neutral | None | None | None | None | I |
| D/M | 0.3933 | ambiguous | 0.4055 | ambiguous | 0.228 | Stabilizing | 0.98 | D | 0.261 | neutral | None | None | None | None | I |
| D/N | 0.0843 | likely_benign | 0.0909 | benign | 0.375 | Stabilizing | 0.064 | N | 0.194 | neutral | N | 0.41364228 | None | None | I |
| D/P | 0.3682 | ambiguous | 0.3751 | ambiguous | 0.157 | Stabilizing | 0.98 | D | 0.349 | neutral | None | None | None | None | I |
| D/Q | 0.1929 | likely_benign | 0.2022 | benign | 0.376 | Stabilizing | 0.98 | D | 0.327 | neutral | None | None | None | None | I |
| D/R | 0.267 | likely_benign | 0.2755 | benign | 0.703 | Stabilizing | 0.98 | D | 0.338 | neutral | None | None | None | None | I |
| D/S | 0.0846 | likely_benign | 0.0895 | benign | 0.305 | Stabilizing | 0.209 | N | 0.138 | neutral | None | None | None | None | I |
| D/T | 0.1384 | likely_benign | 0.1465 | benign | 0.406 | Stabilizing | 0.083 | N | 0.189 | neutral | None | None | None | None | I |
| D/V | 0.1033 | likely_benign | 0.1105 | benign | 0.157 | Stabilizing | 0.064 | N | 0.268 | neutral | N | 0.405908231 | None | None | I |
| D/W | 0.7981 | likely_pathogenic | 0.8021 | pathogenic | -0.091 | Destabilizing | 0.998 | D | 0.367 | neutral | None | None | None | None | I |
| D/Y | 0.1897 | likely_benign | 0.2036 | benign | 0.087 | Stabilizing | 0.991 | D | 0.294 | neutral | N | 0.461204154 | 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.