Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27372 | 82339;82340;82341 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| N2AB | 25731 | 77416;77417;77418 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| N2A | 24804 | 74635;74636;74637 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| N2B | 18307 | 55144;55145;55146 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| Novex-1 | 18432 | 55519;55520;55521 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| Novex-2 | 18499 | 55720;55721;55722 | chr2:178564018;178564017;178564016 | chr2:179428745;179428744;179428743 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 0.142 | N | 0.591 | 0.511 | 0.364141725642 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| P/S | rs1287205407  |
-1.638 | 0.988 | N | 0.824 | 0.428 | 0.416581338634 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/T | rs1287205407 |
-1.53 | 0.988 | N | 0.813 | 0.423 | 0.485634191555 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/T | rs1287205407 |
-1.53 | 0.988 | N | 0.813 | 0.423 | 0.485634191555 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85855E-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 | 0.1316 | likely_benign | 0.1144 | benign | -1.651 | Destabilizing | 0.958 | D | 0.766 | deleterious | N | 0.470434139 | None | None | I |
| P/C | 0.561 | ambiguous | 0.522 | ambiguous | -1.035 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| P/D | 0.8376 | likely_pathogenic | 0.7989 | pathogenic | -1.842 | Destabilizing | 0.995 | D | 0.829 | deleterious | None | None | None | None | I |
| P/E | 0.5491 | ambiguous | 0.4823 | ambiguous | -1.858 | Destabilizing | 0.991 | D | 0.823 | deleterious | None | None | None | None | I |
| P/F | 0.591 | likely_pathogenic | 0.558 | ambiguous | -1.359 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| P/G | 0.618 | likely_pathogenic | 0.561 | ambiguous | -1.948 | Destabilizing | 0.991 | D | 0.834 | deleterious | None | None | None | None | I |
| P/H | 0.3519 | ambiguous | 0.3204 | benign | -1.504 | Destabilizing | 0.998 | D | 0.885 | deleterious | N | 0.520444992 | None | None | I |
| P/I | 0.3356 | likely_benign | 0.2933 | benign | -0.927 | Destabilizing | 0.995 | D | 0.88 | deleterious | None | None | None | None | I |
| P/K | 0.3835 | ambiguous | 0.3183 | benign | -1.325 | Destabilizing | 0.938 | D | 0.804 | deleterious | None | None | None | None | I |
| P/L | 0.1648 | likely_benign | 0.1505 | benign | -0.927 | Destabilizing | 0.988 | D | 0.863 | deleterious | N | 0.502251831 | None | None | I |
| P/M | 0.3714 | ambiguous | 0.3286 | benign | -0.665 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| P/N | 0.6681 | likely_pathogenic | 0.6208 | pathogenic | -1.1 | Destabilizing | 0.991 | D | 0.857 | deleterious | None | None | None | None | I |
| P/Q | 0.2769 | likely_benign | 0.2303 | benign | -1.336 | Destabilizing | 0.991 | D | 0.833 | deleterious | None | None | None | None | I |
| P/R | 0.2733 | likely_benign | 0.2298 | benign | -0.756 | Destabilizing | 0.142 | N | 0.591 | neutral | N | 0.507567749 | None | None | I |
| P/S | 0.2819 | likely_benign | 0.2465 | benign | -1.549 | Destabilizing | 0.988 | D | 0.824 | deleterious | N | 0.488703025 | None | None | I |
| P/T | 0.253 | likely_benign | 0.2143 | benign | -1.472 | Destabilizing | 0.988 | D | 0.813 | deleterious | N | 0.501744852 | None | None | I |
| P/V | 0.272 | likely_benign | 0.2289 | benign | -1.136 | Destabilizing | 0.995 | D | 0.861 | deleterious | None | None | None | None | I |
| P/W | 0.8188 | likely_pathogenic | 0.8052 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| P/Y | 0.624 | likely_pathogenic | 0.5678 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
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.