Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| N2AB | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| N2A | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| N2B | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| Novex-1 | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| Novex-2 | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
| Novex-3 | 52 | 379;380;381 | chr2:178802279;178802278;178802277 | chr2:179667006;179667005;179667004 |
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/R | rs761625399  |
0.137 | 1.0 | N | 0.751 | 0.537 | 0.318828661733 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | -0.317(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| P/R | rs761625399 |
0.137 | 1.0 | N | 0.751 | 0.537 | 0.318828661733 | gnomAD-4.0.0 | 2.73627E-06 | None | None | None | -0.317(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59717E-06 | 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 | 0.1095 | likely_benign | 0.149 | benign | -0.297 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | N | 0.442164647 | None | -0.436(TCAP) | N |
| P/C | 0.876 | likely_pathogenic | 0.9569 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | 0.343(TCAP) | N |
| P/D | 0.4746 | ambiguous | 0.6696 | pathogenic | 0.105 | Stabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | 0.36(TCAP) | N |
| P/E | 0.2927 | likely_benign | 0.4605 | ambiguous | 0.001 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | 0.317(TCAP) | N |
| P/F | 0.7553 | likely_pathogenic | 0.8832 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | 0.453(TCAP) | N |
| P/G | 0.4183 | ambiguous | 0.5503 | ambiguous | -0.397 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | -0.464(TCAP) | N |
| P/H | 0.3238 | likely_benign | 0.4999 | ambiguous | -0.011 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.456018335 | None | 0.597(TCAP) | N |
| P/I | 0.5454 | ambiguous | 0.721 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | -0.348(TCAP) | N |
| P/K | 0.4225 | ambiguous | 0.6077 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -0.08(TCAP) | N |
| P/L | 0.1965 | likely_benign | 0.2959 | benign | -0.182 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.512583076 | None | -0.348(TCAP) | N |
| P/M | 0.5452 | ambiguous | 0.7157 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | 0.141(TCAP) | N |
| P/N | 0.4482 | ambiguous | 0.5926 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | -0.209(TCAP) | N |
| P/Q | 0.1876 | likely_benign | 0.2884 | benign | -0.283 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -0.027(TCAP) | N |
| P/R | 0.252 | likely_benign | 0.4032 | ambiguous | 0.135 | Stabilizing | 1.0 | D | 0.751 | deleterious | N | 0.450492011 | None | -0.317(TCAP) | N |
| P/S | 0.1437 | likely_benign | 0.2085 | benign | -0.501 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.4371428 | None | -0.067(TCAP) | N |
| P/T | 0.1547 | likely_benign | 0.2334 | benign | -0.5 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.485553659 | None | -0.078(TCAP) | N |
| P/V | 0.3782 | ambiguous | 0.5464 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | -0.377(TCAP) | N |
| P/W | 0.8319 | likely_pathogenic | 0.9332 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | 0.601(TCAP) | N |
| P/Y | 0.6992 | likely_pathogenic | 0.8533 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | 0.417(TCAP) | 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.