Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9247 | 27964;27965;27966 | chr2:178712091;178712090;178712089 | chr2:179576818;179576817;179576816 |
| N2AB | 8930 | 27013;27014;27015 | chr2:178712091;178712090;178712089 | chr2:179576818;179576817;179576816 |
| N2A | 8003 | 24232;24233;24234 | chr2:178712091;178712090;178712089 | chr2:179576818;179576817;179576816 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs775155957  |
0.06 | 0.042 | N | 0.347 | 0.164 | 0.538745750885 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs775155957 |
0.06 | 0.042 | N | 0.347 | 0.164 | 0.538745750885 | gnomAD-4.0.0 | 3.18257E-06 | None | None | None | None | N | None | 0 | 4.57373E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1475796244 |
-0.248 | 0.001 | N | 0.145 | 0.128 | 0.16115917748 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| P/S | rs1475796244 |
-0.248 | 0.001 | N | 0.145 | 0.128 | 0.16115917748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| P/S | rs1475796244 |
-0.248 | 0.001 | N | 0.145 | 0.128 | 0.16115917748 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.42863E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0715 | likely_benign | 0.0865 | benign | -0.774 | Destabilizing | None | N | 0.149 | neutral | N | 0.46829599 | None | None | N |
| P/C | 0.5483 | ambiguous | 0.6291 | pathogenic | -0.481 | Destabilizing | 0.667 | D | 0.32 | neutral | None | None | None | None | N |
| P/D | 0.4749 | ambiguous | 0.5924 | pathogenic | -0.767 | Destabilizing | 0.104 | N | 0.313 | neutral | None | None | None | None | N |
| P/E | 0.3207 | likely_benign | 0.4301 | ambiguous | -0.835 | Destabilizing | 0.104 | N | 0.309 | neutral | None | None | None | None | N |
| P/F | 0.5198 | ambiguous | 0.6434 | pathogenic | -0.779 | Destabilizing | 0.667 | D | 0.346 | neutral | None | None | None | None | N |
| P/G | 0.2392 | likely_benign | 0.2723 | benign | -0.973 | Destabilizing | None | N | 0.171 | neutral | None | None | None | None | N |
| P/H | 0.2304 | likely_benign | 0.3039 | benign | -0.552 | Destabilizing | 0.822 | D | 0.323 | neutral | N | 0.487138042 | None | None | N |
| P/I | 0.4088 | ambiguous | 0.5227 | ambiguous | -0.366 | Destabilizing | 0.22 | N | 0.382 | neutral | None | None | None | None | N |
| P/K | 0.3909 | ambiguous | 0.536 | ambiguous | -0.721 | Destabilizing | 0.104 | N | 0.312 | neutral | None | None | None | None | N |
| P/L | 0.168 | likely_benign | 0.2235 | benign | -0.366 | Destabilizing | 0.042 | N | 0.347 | neutral | N | 0.508027814 | None | None | N |
| P/M | 0.3357 | likely_benign | 0.4284 | ambiguous | -0.378 | Destabilizing | 0.667 | D | 0.323 | neutral | None | None | None | None | N |
| P/N | 0.2909 | likely_benign | 0.3407 | ambiguous | -0.41 | Destabilizing | 0.22 | N | 0.338 | neutral | None | None | None | None | N |
| P/Q | 0.1729 | likely_benign | 0.2249 | benign | -0.629 | Destabilizing | 0.364 | N | 0.376 | neutral | None | None | None | None | N |
| P/R | 0.2797 | likely_benign | 0.4037 | ambiguous | -0.192 | Destabilizing | 0.175 | N | 0.375 | neutral | N | 0.505083509 | None | None | N |
| P/S | 0.105 | likely_benign | 0.1162 | benign | -0.741 | Destabilizing | 0.001 | N | 0.145 | neutral | N | 0.422771557 | None | None | N |
| P/T | 0.1184 | likely_benign | 0.1427 | benign | -0.713 | Destabilizing | 0.042 | N | 0.307 | neutral | N | 0.476011396 | None | None | N |
| P/V | 0.2693 | likely_benign | 0.3532 | ambiguous | -0.467 | Destabilizing | 0.055 | N | 0.334 | neutral | None | None | None | None | N |
| P/W | 0.6543 | likely_pathogenic | 0.7756 | pathogenic | -0.921 | Destabilizing | 0.958 | D | 0.334 | neutral | None | None | None | None | N |
| P/Y | 0.4531 | ambiguous | 0.5679 | pathogenic | -0.628 | Destabilizing | 0.859 | D | 0.345 | 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.