Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30537 | 91834;91835;91836 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| N2AB | 28896 | 86911;86912;86913 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| N2A | 27969 | 84130;84131;84132 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| N2B | 21472 | 64639;64640;64641 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| Novex-1 | 21597 | 65014;65015;65016 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| Novex-2 | 21664 | 65215;65216;65217 | chr2:178550229;178550228;178550227 | chr2:179414956;179414955;179414954 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | None | N | 0.209 | 0.274 | 0.232513804876 | gnomAD-4.0.0 | 6.84354E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99604E-07 | 0 | 0 |
| I/S | rs758126299  |
-0.924 | 0.012 | N | 0.26 | 0.183 | 0.232513804876 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/S | rs758126299 |
-0.924 | 0.012 | N | 0.26 | 0.183 | 0.232513804876 | gnomAD-4.0.0 | 2.73742E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59842E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1583 | likely_benign | 0.1828 | benign | -1.062 | Destabilizing | 0.007 | N | 0.187 | neutral | None | None | None | None | N |
| I/C | 0.4142 | ambiguous | 0.4433 | ambiguous | -0.859 | Destabilizing | 0.356 | N | 0.312 | neutral | None | None | None | None | N |
| I/D | 0.3412 | ambiguous | 0.4141 | ambiguous | -0.457 | Destabilizing | 0.038 | N | 0.349 | neutral | None | None | None | None | N |
| I/E | 0.2692 | likely_benign | 0.3066 | benign | -0.488 | Destabilizing | 0.072 | N | 0.35 | neutral | None | None | None | None | N |
| I/F | 0.1197 | likely_benign | 0.144 | benign | -0.68 | Destabilizing | 0.055 | N | 0.264 | neutral | N | 0.493023391 | None | None | N |
| I/G | 0.365 | ambiguous | 0.4453 | ambiguous | -1.316 | Destabilizing | 0.031 | N | 0.296 | neutral | None | None | None | None | N |
| I/H | 0.2449 | likely_benign | 0.2717 | benign | -0.43 | Destabilizing | 0.356 | N | 0.307 | neutral | None | None | None | None | N |
| I/K | 0.2155 | likely_benign | 0.2442 | benign | -0.781 | Destabilizing | 0.072 | N | 0.347 | neutral | None | None | None | None | N |
| I/L | 0.0839 | likely_benign | 0.0874 | benign | -0.472 | Destabilizing | 0.005 | N | 0.154 | neutral | N | 0.48230265 | None | None | N |
| I/M | 0.0808 | likely_benign | 0.0881 | benign | -0.546 | Destabilizing | 0.171 | N | 0.267 | neutral | D | 0.524573347 | None | None | N |
| I/N | 0.1044 | likely_benign | 0.1192 | benign | -0.655 | Destabilizing | None | N | 0.209 | neutral | N | 0.483615641 | None | None | N |
| I/P | 0.4949 | ambiguous | 0.5973 | pathogenic | -0.636 | Destabilizing | 0.136 | N | 0.409 | neutral | None | None | None | None | N |
| I/Q | 0.2153 | likely_benign | 0.2304 | benign | -0.822 | Destabilizing | 0.356 | N | 0.41 | neutral | None | None | None | None | N |
| I/R | 0.181 | likely_benign | 0.2151 | benign | -0.195 | Destabilizing | 0.072 | N | 0.414 | neutral | None | None | None | None | N |
| I/S | 0.1247 | likely_benign | 0.1369 | benign | -1.196 | Destabilizing | 0.012 | N | 0.26 | neutral | N | 0.514566997 | None | None | N |
| I/T | 0.0798 | likely_benign | 0.0833 | benign | -1.112 | Destabilizing | None | N | 0.121 | neutral | N | 0.463503458 | None | None | N |
| I/V | 0.0586 | likely_benign | 0.0617 | benign | -0.636 | Destabilizing | None | N | 0.151 | neutral | N | 0.483916016 | None | None | N |
| I/W | 0.6173 | likely_pathogenic | 0.678 | pathogenic | -0.711 | Destabilizing | 0.864 | D | 0.298 | neutral | None | None | None | None | N |
| I/Y | 0.3264 | likely_benign | 0.3614 | ambiguous | -0.495 | Destabilizing | 0.356 | N | 0.372 | neutral | 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.