Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7531 | 22816;22817;22818 | chr2:178722072;178722071;178722070 | chr2:179586799;179586798;179586797 |
| N2AB | 7214 | 21865;21866;21867 | chr2:178722072;178722071;178722070 | chr2:179586799;179586798;179586797 |
| N2A | 6287 | 19084;19085;19086 | chr2:178722072;178722071;178722070 | chr2:179586799;179586798;179586797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.999 | N | 0.375 | 0.302 | 0.283371740733 | gnomAD-4.0.0 | 1.59752E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44438E-05 | 0 |
| S/I | None | None | 0.994 | N | 0.425 | 0.333 | 0.33085137897 | gnomAD-4.0.0 | 6.85399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00559E-07 | 0 | 0 |
| S/N | rs267599060  |
-0.509 | 0.746 | N | 0.365 | 0.224 | None | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 2.48221E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs267599060 |
-0.509 | 0.746 | N | 0.365 | 0.224 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.89477E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs267599060 |
-0.509 | 0.746 | N | 0.365 | 0.224 | None | gnomAD-4.0.0 | 1.73786E-05 | None | None | None | None | N | None | 3.33975E-04 | 3.34046E-05 | None | 0 | 0 | None | 0 | 0 | 8.48572E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0773 | likely_benign | 0.0849 | benign | -0.582 | Destabilizing | 0.333 | N | 0.377 | neutral | None | None | None | None | N |
| S/C | 0.2742 | likely_benign | 0.2522 | benign | -0.467 | Destabilizing | 0.999 | D | 0.375 | neutral | N | 0.471749362 | None | None | N |
| S/D | 0.5785 | likely_pathogenic | 0.6015 | pathogenic | -0.122 | Destabilizing | 0.971 | D | 0.293 | neutral | None | None | None | None | N |
| S/E | 0.6586 | likely_pathogenic | 0.7011 | pathogenic | -0.134 | Destabilizing | 0.979 | D | 0.297 | neutral | None | None | None | None | N |
| S/F | 0.2684 | likely_benign | 0.3047 | benign | -0.727 | Destabilizing | 0.999 | D | 0.431 | neutral | None | None | None | None | N |
| S/G | 0.141 | likely_benign | 0.1523 | benign | -0.827 | Destabilizing | 0.95 | D | 0.321 | neutral | N | 0.510179032 | None | None | N |
| S/H | 0.5522 | ambiguous | 0.5813 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.38 | neutral | None | None | None | None | N |
| S/I | 0.219 | likely_benign | 0.2442 | benign | -0.044 | Destabilizing | 0.994 | D | 0.425 | neutral | N | 0.4984046 | None | None | N |
| S/K | 0.831 | likely_pathogenic | 0.8612 | pathogenic | -0.699 | Destabilizing | 0.984 | D | 0.295 | neutral | None | None | None | None | N |
| S/L | 0.1172 | likely_benign | 0.1323 | benign | -0.044 | Destabilizing | 0.984 | D | 0.383 | neutral | None | None | None | None | N |
| S/M | 0.2276 | likely_benign | 0.2456 | benign | 0.141 | Stabilizing | 1.0 | D | 0.387 | neutral | None | None | None | None | N |
| S/N | 0.2084 | likely_benign | 0.2114 | benign | -0.608 | Destabilizing | 0.746 | D | 0.365 | neutral | N | 0.422866691 | None | None | N |
| S/P | 0.1634 | likely_benign | 0.1773 | benign | -0.189 | Destabilizing | 0.049 | N | 0.257 | neutral | None | None | None | None | N |
| S/Q | 0.6522 | likely_pathogenic | 0.7007 | pathogenic | -0.758 | Destabilizing | 0.999 | D | 0.4 | neutral | None | None | None | None | N |
| S/R | 0.7881 | likely_pathogenic | 0.8166 | pathogenic | -0.569 | Destabilizing | 0.997 | D | 0.401 | neutral | N | 0.44097245 | None | None | N |
| S/T | 0.0882 | likely_benign | 0.0943 | benign | -0.639 | Destabilizing | 0.008 | N | 0.115 | neutral | N | 0.392389069 | None | None | N |
| S/V | 0.2073 | likely_benign | 0.2344 | benign | -0.189 | Destabilizing | 0.958 | D | 0.37 | neutral | None | None | None | None | N |
| S/W | 0.4767 | ambiguous | 0.5199 | ambiguous | -0.709 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| S/Y | 0.2669 | likely_benign | 0.2896 | benign | -0.449 | Destabilizing | 0.999 | D | 0.425 | 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.