Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35966 | 108121;108122;108123 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| N2AB | 34325 | 103198;103199;103200 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| N2A | 33398 | 100417;100418;100419 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| N2B | 26901 | 80926;80927;80928 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| Novex-1 | 27026 | 81301;81302;81303 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| Novex-2 | 27093 | 81502;81503;81504 | chr2:178527092;178527091;178527090 | chr2:179391819;179391818;179391817 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs727505008  |
-0.264 | 0.997 | N | 0.777 | 0.363 | 0.347217280506 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | -0.169(OBSL1) 0.119(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/D | rs727505008 |
-0.264 | 0.997 | N | 0.777 | 0.363 | 0.347217280506 | gnomAD-4.0.0 | 1.36832E-05 | None | None | None | -0.169(OBSL1) 0.119(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61894E-05 | 1.15942E-05 | 1.6564E-05 |
| G/S | rs541322681 |
-0.735 | 0.955 | N | 0.433 | 0.339 | 0.223847106136 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | -0.267(OBSL1) -0.077(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs541322681 |
-0.735 | 0.955 | N | 0.433 | 0.339 | 0.223847106136 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -0.267(OBSL1) -0.077(OBSCN) | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| G/S | rs541322681 |
-0.735 | 0.955 | N | 0.433 | 0.339 | 0.223847106136 | 1000 genomes | 1.99681E-04 | None | None | None | -0.267(OBSL1) -0.077(OBSCN) | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/S | rs541322681 |
-0.735 | 0.955 | N | 0.433 | 0.339 | 0.223847106136 | gnomAD-4.0.0 | 1.31335E-05 | None | None | None | -0.267(OBSL1) -0.077(OBSCN) | N | None | 0 | 6.5368E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1461 | likely_benign | 0.1441 | benign | -0.364 | Destabilizing | 0.053 | N | 0.24 | neutral | N | 0.378039345 | None | -0.494(OBSL1) -0.374(OBSCN) | N |
| G/C | 0.4117 | ambiguous | 0.3983 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.501755202 | None | -0.249(OBSL1) 0.074(OBSCN) | N |
| G/D | 0.5565 | ambiguous | 0.5476 | ambiguous | -0.2 | Destabilizing | 0.997 | D | 0.777 | deleterious | N | 0.485996316 | None | -0.169(OBSL1) 0.119(OBSCN) | N |
| G/E | 0.3721 | ambiguous | 0.3228 | benign | -0.285 | Destabilizing | 0.995 | D | 0.781 | deleterious | None | None | None | -0.28(OBSL1) 0.033(OBSCN) | N |
| G/F | 0.8954 | likely_pathogenic | 0.8882 | pathogenic | -0.789 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | 0.12(OBSL1) 0.41(OBSCN) | N |
| G/H | 0.697 | likely_pathogenic | 0.6838 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | 0.577(OBSL1) 0.771(OBSCN) | N |
| G/I | 0.6525 | likely_pathogenic | 0.6273 | pathogenic | -0.136 | Destabilizing | 0.995 | D | 0.843 | deleterious | None | None | None | -0.574(OBSL1) -0.347(OBSCN) | N |
| G/K | 0.5701 | likely_pathogenic | 0.5196 | ambiguous | -0.823 | Destabilizing | 0.995 | D | 0.789 | deleterious | None | None | None | -0.54(OBSL1) -0.209(OBSCN) | N |
| G/L | 0.7785 | likely_pathogenic | 0.7558 | pathogenic | -0.136 | Destabilizing | 0.995 | D | 0.751 | deleterious | None | None | None | -0.574(OBSL1) -0.347(OBSCN) | N |
| G/M | 0.7692 | likely_pathogenic | 0.7378 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -0.338(OBSL1) -0.053(OBSCN) | N |
| G/N | 0.5986 | likely_pathogenic | 0.5984 | pathogenic | -0.492 | Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | -0.469(OBSL1) -0.222(OBSCN) | N |
| G/P | 0.9819 | likely_pathogenic | 0.9833 | pathogenic | -0.171 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | -0.544(OBSL1) -0.353(OBSCN) | N |
| G/Q | 0.4549 | ambiguous | 0.4207 | ambiguous | -0.633 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | -0.436(OBSL1) -0.142(OBSCN) | N |
| G/R | 0.3743 | ambiguous | 0.3332 | benign | -0.586 | Destabilizing | 0.997 | D | 0.824 | deleterious | N | 0.440109311 | None | -0.688(OBSL1) -0.417(OBSCN) | N |
| G/S | 0.1169 | likely_benign | 0.119 | benign | -0.788 | Destabilizing | 0.955 | D | 0.433 | neutral | N | 0.39198729 | None | -0.267(OBSL1) -0.077(OBSCN) | N |
| G/T | 0.3304 | likely_benign | 0.3111 | benign | -0.774 | Destabilizing | 0.995 | D | 0.701 | prob.neutral | None | None | None | -0.353(OBSL1) -0.125(OBSCN) | N |
| G/V | 0.5039 | ambiguous | 0.4749 | ambiguous | -0.171 | Destabilizing | 0.987 | D | 0.735 | prob.delet. | N | 0.465429043 | None | -0.544(OBSL1) -0.353(OBSCN) | N |
| G/W | 0.7994 | likely_pathogenic | 0.7753 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | 0.202(OBSL1) 0.521(OBSCN) | N |
| G/Y | 0.806 | likely_pathogenic | 0.7872 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | 0.177(OBSL1) 0.473(OBSCN) | 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.