Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4829 | 14710;14711;14712 | chr2:178735961;178735960;178735959 | chr2:179600688;179600687;179600686 |
| N2AB | 4512 | 13759;13760;13761 | chr2:178735961;178735960;178735959 | chr2:179600688;179600687;179600686 |
| N2A | 3585 | 10978;10979;10980 | chr2:178735961;178735960;178735959 | chr2:179600688;179600687;179600686 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs748930233  |
-0.243 | 0.679 | N | 0.438 | 0.259 | 0.0954503805726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Q/K | rs748930233 |
-0.243 | 0.679 | N | 0.438 | 0.259 | 0.0954503805726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs748930233 |
-0.243 | 0.679 | N | 0.438 | 0.259 | 0.0954503805726 | gnomAD-4.0.0 | 2.10698E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79707E-05 | 0 | 1.60118E-05 |
| Q/P | rs375177753 |
-0.227 | 0.912 | D | 0.571 | 0.396 | None | gnomAD-2.1.1 | 1.21299E-04 | None | None | None | None | N | None | 4.13E-05 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.41825E-04 | 0 |
| Q/P | rs375177753 |
-0.227 | 0.912 | D | 0.571 | 0.396 | None | gnomAD-3.1.2 | 1.70839E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 3.82151E-04 | 0 | 0 |
| Q/P | rs375177753 |
-0.227 | 0.912 | D | 0.571 | 0.396 | None | gnomAD-4.0.0 | 1.9086E-04 | None | None | None | None | N | None | 2.66916E-05 | 5.00117E-05 | None | 0 | 0 | None | 1.56206E-05 | 0 | 2.48344E-04 | 0 | 1.44101E-04 |
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 | 0.6114 | likely_pathogenic | 0.57 | pathogenic | -0.885 | Destabilizing | 0.584 | D | 0.463 | neutral | None | None | None | None | N |
| Q/C | 0.8406 | likely_pathogenic | 0.7988 | pathogenic | -0.439 | Destabilizing | 0.998 | D | 0.577 | neutral | None | None | None | None | N |
| Q/D | 0.8667 | likely_pathogenic | 0.8073 | pathogenic | -1.208 | Destabilizing | 0.872 | D | 0.412 | neutral | None | None | None | None | N |
| Q/E | 0.1409 | likely_benign | 0.1182 | benign | -1.035 | Destabilizing | 0.679 | D | 0.392 | neutral | N | 0.442765828 | None | None | N |
| Q/F | 0.8309 | likely_pathogenic | 0.7955 | pathogenic | -0.586 | Destabilizing | 0.96 | D | 0.599 | neutral | None | None | None | None | N |
| Q/G | 0.5907 | likely_pathogenic | 0.5514 | ambiguous | -1.28 | Destabilizing | 0.737 | D | 0.511 | neutral | None | None | None | None | N |
| Q/H | 0.5181 | ambiguous | 0.4074 | ambiguous | -1.093 | Destabilizing | 0.007 | N | 0.199 | neutral | N | 0.430476301 | None | None | N |
| Q/I | 0.6399 | likely_pathogenic | 0.5972 | pathogenic | 0.153 | Stabilizing | 0.773 | D | 0.573 | neutral | None | None | None | None | N |
| Q/K | 0.2252 | likely_benign | 0.1917 | benign | -0.359 | Destabilizing | 0.679 | D | 0.438 | neutral | N | 0.446138205 | None | None | N |
| Q/L | 0.2293 | likely_benign | 0.2033 | benign | 0.153 | Stabilizing | 0.007 | N | 0.406 | neutral | N | 0.415871311 | None | None | N |
| Q/M | 0.4774 | ambiguous | 0.4504 | ambiguous | 0.553 | Stabilizing | 0.96 | D | 0.521 | neutral | None | None | None | None | N |
| Q/N | 0.6912 | likely_pathogenic | 0.6197 | pathogenic | -1.128 | Destabilizing | 0.872 | D | 0.411 | neutral | None | None | None | None | N |
| Q/P | 0.9703 | likely_pathogenic | 0.9586 | pathogenic | -0.163 | Destabilizing | 0.912 | D | 0.571 | neutral | D | 0.583453933 | None | None | N |
| Q/R | 0.2506 | likely_benign | 0.2038 | benign | -0.392 | Destabilizing | 0.837 | D | 0.436 | neutral | N | 0.448503553 | None | None | N |
| Q/S | 0.639 | likely_pathogenic | 0.5871 | pathogenic | -1.296 | Destabilizing | 0.1 | N | 0.201 | neutral | None | None | None | None | N |
| Q/T | 0.5061 | ambiguous | 0.4457 | ambiguous | -0.916 | Destabilizing | 0.773 | D | 0.482 | neutral | None | None | None | None | N |
| Q/V | 0.5014 | ambiguous | 0.4539 | ambiguous | -0.163 | Destabilizing | 0.773 | D | 0.538 | neutral | None | None | None | None | N |
| Q/W | 0.768 | likely_pathogenic | 0.7014 | pathogenic | -0.472 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| Q/Y | 0.6599 | likely_pathogenic | 0.5757 | pathogenic | -0.168 | Destabilizing | 0.872 | D | 0.551 | 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.