Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16399 | 49420;49421;49422 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| N2AB | 14758 | 44497;44498;44499 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| N2A | 13831 | 41716;41717;41718 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| N2B | 7334 | 22225;22226;22227 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| Novex-1 | 7459 | 22600;22601;22602 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| Novex-2 | 7526 | 22801;22802;22803 | chr2:178614202;178614201;178614200 | chr2:179478929;179478928;179478927 |
| 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/Q | rs550330154  |
0.198 | 0.966 | N | 0.457 | 0.299 | 0.235038932564 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.92003E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs550330154 |
0.198 | 0.966 | N | 0.457 | 0.299 | 0.235038932564 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| H/Q | rs550330154 |
0.198 | 0.966 | N | 0.457 | 0.299 | 0.235038932564 | gnomAD-4.0.0 | 3.10083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.9815E-05 | None | 0 | 0 | 0 | 0 | 1.60236E-05 |
| H/Y | rs1194172632 |
1.411 | 0.051 | N | 0.163 | 0.185 | 0.18995819373 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| H/Y | rs1194172632 |
1.411 | 0.051 | N | 0.163 | 0.185 | 0.18995819373 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| H/Y | rs1194172632 |
1.411 | 0.051 | N | 0.163 | 0.185 | 0.18995819373 | gnomAD-4.0.0 | 6.41662E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.70367E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3333 | likely_benign | 0.3462 | ambiguous | -0.46 | Destabilizing | 0.842 | D | 0.405 | neutral | None | None | None | None | N |
| H/C | 0.168 | likely_benign | 0.1722 | benign | 0.287 | Stabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| H/D | 0.3445 | ambiguous | 0.3725 | ambiguous | -0.512 | Destabilizing | 0.012 | N | 0.229 | neutral | N | 0.472452252 | None | None | N |
| H/E | 0.2777 | likely_benign | 0.285 | benign | -0.418 | Destabilizing | 0.728 | D | 0.383 | neutral | None | None | None | None | N |
| H/F | 0.2542 | likely_benign | 0.2543 | benign | 0.843 | Stabilizing | 0.904 | D | 0.446 | neutral | None | None | None | None | N |
| H/G | 0.4033 | ambiguous | 0.4231 | ambiguous | -0.818 | Destabilizing | 0.842 | D | 0.411 | neutral | None | None | None | None | N |
| H/I | 0.2331 | likely_benign | 0.2282 | benign | 0.523 | Stabilizing | 0.974 | D | 0.523 | neutral | None | None | None | None | N |
| H/K | 0.2955 | likely_benign | 0.2822 | benign | -0.322 | Destabilizing | 0.842 | D | 0.427 | neutral | None | None | None | None | N |
| H/L | 0.1271 | likely_benign | 0.1239 | benign | 0.523 | Stabilizing | 0.801 | D | 0.431 | neutral | N | 0.461742545 | None | None | N |
| H/M | 0.3334 | likely_benign | 0.3325 | benign | 0.273 | Stabilizing | 0.998 | D | 0.515 | neutral | None | None | None | None | N |
| H/N | 0.1208 | likely_benign | 0.1228 | benign | -0.522 | Destabilizing | 0.669 | D | 0.405 | neutral | N | 0.469040183 | None | None | N |
| H/P | 0.7332 | likely_pathogenic | 0.7389 | pathogenic | 0.217 | Stabilizing | 0.966 | D | 0.511 | neutral | N | 0.471199645 | None | None | N |
| H/Q | 0.1442 | likely_benign | 0.1495 | benign | -0.299 | Destabilizing | 0.966 | D | 0.457 | neutral | N | 0.402589562 | None | None | N |
| H/R | 0.1792 | likely_benign | 0.1804 | benign | -0.913 | Destabilizing | 0.966 | D | 0.443 | neutral | N | 0.455471517 | None | None | N |
| H/S | 0.2466 | likely_benign | 0.2595 | benign | -0.443 | Destabilizing | 0.842 | D | 0.429 | neutral | None | None | None | None | N |
| H/T | 0.2348 | likely_benign | 0.2397 | benign | -0.242 | Destabilizing | 0.974 | D | 0.431 | neutral | None | None | None | None | N |
| H/V | 0.1753 | likely_benign | 0.1737 | benign | 0.217 | Stabilizing | 0.949 | D | 0.452 | neutral | None | None | None | None | N |
| H/W | 0.4096 | ambiguous | 0.4045 | ambiguous | 1.118 | Stabilizing | 0.993 | D | 0.524 | neutral | None | None | None | None | N |
| H/Y | 0.0967 | likely_benign | 0.0941 | benign | 1.148 | Stabilizing | 0.051 | N | 0.163 | neutral | N | 0.463834269 | 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.