Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15911 | 47956;47957;47958 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| N2AB | 14270 | 43033;43034;43035 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| N2A | 13343 | 40252;40253;40254 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| N2B | 6846 | 20761;20762;20763 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| Novex-1 | 6971 | 21136;21137;21138 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| Novex-2 | 7038 | 21337;21338;21339 | chr2:178617354;178617353;178617352 | chr2:179482081;179482080;179482079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs761390938  |
0.127 | None | N | 0.197 | 0.185 | 0.194818534648 | gnomAD-2.1.1 | 2.36E-05 | None | None | None | None | I | None | 0 | 3.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.12E-05 | 0 |
| M/T | rs761390938 |
0.127 | None | N | 0.197 | 0.185 | 0.194818534648 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/T | rs761390938 |
0.127 | None | N | 0.197 | 0.185 | 0.194818534648 | gnomAD-4.0.0 | 5.68789E-06 | None | None | None | None | I | None | 0 | 3.79305E-05 | None | 0 | 0 | None | 0 | 0 | 5.99391E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1772 | likely_benign | 0.169 | benign | -0.099 | Destabilizing | None | N | 0.171 | neutral | None | None | None | None | I |
| M/C | 0.6105 | likely_pathogenic | 0.5706 | pathogenic | -0.304 | Destabilizing | 0.245 | N | 0.475 | neutral | None | None | None | None | I |
| M/D | 0.4198 | ambiguous | 0.3975 | ambiguous | 0.439 | Stabilizing | 0.018 | N | 0.443 | neutral | None | None | None | None | I |
| M/E | 0.1996 | likely_benign | 0.2088 | benign | 0.371 | Stabilizing | 0.004 | N | 0.359 | neutral | None | None | None | None | I |
| M/F | 0.3332 | likely_benign | 0.3394 | benign | -0.07 | Destabilizing | 0.044 | N | 0.406 | neutral | None | None | None | None | I |
| M/G | 0.251 | likely_benign | 0.2415 | benign | -0.196 | Destabilizing | 0.004 | N | 0.397 | neutral | None | None | None | None | I |
| M/H | 0.2972 | likely_benign | 0.3016 | benign | 0.467 | Stabilizing | 0.245 | N | 0.515 | neutral | None | None | None | None | I |
| M/I | 0.2779 | likely_benign | 0.2643 | benign | 0.051 | Stabilizing | 0.001 | N | 0.275 | neutral | N | 0.434860258 | None | None | I |
| M/K | 0.0682 | likely_benign | 0.0701 | benign | 0.541 | Stabilizing | None | N | 0.175 | neutral | N | 0.390466645 | None | None | I |
| M/L | 0.1282 | likely_benign | 0.1375 | benign | 0.051 | Stabilizing | 0.001 | N | 0.194 | neutral | N | 0.45266872 | None | None | I |
| M/N | 0.2236 | likely_benign | 0.2171 | benign | 0.666 | Stabilizing | 0.018 | N | 0.447 | neutral | None | None | None | None | I |
| M/P | 0.2426 | likely_benign | 0.2031 | benign | 0.026 | Stabilizing | None | N | 0.213 | neutral | None | None | None | None | I |
| M/Q | 0.0848 | likely_benign | 0.0861 | benign | 0.506 | Stabilizing | 0.009 | N | 0.376 | neutral | None | None | None | None | I |
| M/R | 0.1043 | likely_benign | 0.0978 | benign | 0.966 | Stabilizing | 0.007 | N | 0.433 | neutral | N | 0.402197221 | None | None | I |
| M/S | 0.1753 | likely_benign | 0.1706 | benign | 0.265 | Stabilizing | 0.002 | N | 0.319 | neutral | None | None | None | None | I |
| M/T | 0.126 | likely_benign | 0.1177 | benign | 0.287 | Stabilizing | None | N | 0.197 | neutral | N | 0.356633512 | None | None | I |
| M/V | 0.094 | likely_benign | 0.0864 | benign | 0.026 | Stabilizing | None | N | 0.077 | neutral | N | 0.4111934 | None | None | I |
| M/W | 0.5149 | ambiguous | 0.5035 | ambiguous | -0.097 | Destabilizing | 0.497 | N | 0.472 | neutral | None | None | None | None | I |
| M/Y | 0.385 | ambiguous | 0.4048 | ambiguous | 0.119 | Stabilizing | 0.085 | N | 0.505 | neutral | 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.