Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2408 | 7447;7448;7449 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| N2AB | 2408 | 7447;7448;7449 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| N2A | 2408 | 7447;7448;7449 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| N2B | 2362 | 7309;7310;7311 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| Novex-1 | 2362 | 7309;7310;7311 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| Novex-2 | 2362 | 7309;7310;7311 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
| Novex-3 | 2408 | 7447;7448;7449 | chr2:178773946;178773945;178773944 | chr2:179638673;179638672;179638671 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs777244038  |
-0.115 | 0.549 | N | 0.416 | 0.134 | 0.208000267992 | gnomAD-2.1.1 | 5.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.24642E-04 | None | 0 | 0 | 0 |
| Q/R | rs777244038 |
-0.115 | 0.549 | N | 0.416 | 0.134 | 0.208000267992 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| Q/R | rs777244038 |
-0.115 | 0.549 | N | 0.416 | 0.134 | 0.208000267992 | gnomAD-4.0.0 | 3.09798E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.48896E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3048 | likely_benign | 0.302 | benign | -0.654 | Destabilizing | 0.4 | N | 0.363 | neutral | None | None | None | None | N |
| Q/C | 0.7738 | likely_pathogenic | 0.7532 | pathogenic | -0.109 | Destabilizing | 0.992 | D | 0.525 | neutral | None | None | None | None | N |
| Q/D | 0.6003 | likely_pathogenic | 0.5713 | pathogenic | -0.87 | Destabilizing | 0.617 | D | 0.388 | neutral | None | None | None | None | N |
| Q/E | 0.1324 | likely_benign | 0.1287 | benign | -0.74 | Destabilizing | 0.201 | N | 0.317 | neutral | N | 0.507241194 | None | None | N |
| Q/F | 0.8026 | likely_pathogenic | 0.7877 | pathogenic | -0.235 | Destabilizing | 0.85 | D | 0.539 | neutral | None | None | None | None | N |
| Q/G | 0.39 | ambiguous | 0.3909 | ambiguous | -1.044 | Destabilizing | 0.617 | D | 0.499 | neutral | None | None | None | None | N |
| Q/H | 0.3616 | ambiguous | 0.3437 | ambiguous | -0.89 | Destabilizing | 0.009 | N | 0.175 | neutral | N | 0.512448086 | None | None | N |
| Q/I | 0.5852 | likely_pathogenic | 0.5769 | pathogenic | 0.358 | Stabilizing | 0.447 | N | 0.508 | neutral | None | None | None | None | N |
| Q/K | 0.1837 | likely_benign | 0.179 | benign | -0.467 | Destabilizing | 0.549 | D | 0.335 | neutral | N | 0.473945191 | None | None | N |
| Q/L | 0.1785 | likely_benign | 0.1747 | benign | 0.358 | Stabilizing | 0.002 | N | 0.248 | neutral | N | 0.486782165 | None | None | N |
| Q/M | 0.3991 | ambiguous | 0.3949 | ambiguous | 0.781 | Stabilizing | 0.85 | D | 0.401 | neutral | None | None | None | None | N |
| Q/N | 0.3317 | likely_benign | 0.314 | benign | -1.086 | Destabilizing | 0.447 | N | 0.385 | neutral | None | None | None | None | N |
| Q/P | 0.5116 | ambiguous | 0.5806 | pathogenic | 0.052 | Stabilizing | 0.896 | D | 0.457 | neutral | N | 0.513504287 | None | None | N |
| Q/R | 0.2156 | likely_benign | 0.214 | benign | -0.452 | Destabilizing | 0.549 | D | 0.416 | neutral | N | 0.468247361 | None | None | N |
| Q/S | 0.3683 | ambiguous | 0.3551 | ambiguous | -1.186 | Destabilizing | 0.617 | D | 0.335 | neutral | None | None | None | None | N |
| Q/T | 0.3155 | likely_benign | 0.3003 | benign | -0.859 | Destabilizing | 0.766 | D | 0.423 | neutral | None | None | None | None | N |
| Q/V | 0.4032 | ambiguous | 0.4013 | ambiguous | 0.052 | Stabilizing | 0.447 | N | 0.473 | neutral | None | None | None | None | N |
| Q/W | 0.8036 | likely_pathogenic | 0.789 | pathogenic | -0.145 | Destabilizing | 0.992 | D | 0.539 | neutral | None | None | None | None | N |
| Q/Y | 0.5954 | likely_pathogenic | 0.5798 | pathogenic | 0.101 | Stabilizing | 0.739 | D | 0.439 | 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.