Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27175 | 81748;81749;81750 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| N2AB | 25534 | 76825;76826;76827 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| N2A | 24607 | 74044;74045;74046 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| N2B | 18110 | 54553;54554;54555 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| Novex-1 | 18235 | 54928;54929;54930 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| Novex-2 | 18302 | 55129;55130;55131 | chr2:178564609;178564608;178564607 | chr2:179429336;179429335;179429334 |
| 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/A | None | None | 1.0 | N | 0.61 | 0.393 | 0.408853032482 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/D | rs1704984751  |
None | 1.0 | N | 0.752 | 0.467 | 0.431931272081 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| G/D | rs1704984751 |
None | 1.0 | N | 0.752 | 0.467 | 0.431931272081 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| G/S | rs749305586 |
-1.074 | 1.0 | N | 0.651 | 0.369 | 0.367612772649 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/S | rs749305586 |
-1.074 | 1.0 | N | 0.651 | 0.369 | 0.367612772649 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs749305586 |
-1.074 | 1.0 | N | 0.651 | 0.369 | 0.367612772649 | gnomAD-4.0.0 | 8.05774E-06 | None | None | None | None | N | None | 0 | 5.00367E-05 | None | 0 | 0 | None | 0 | 0 | 7.62914E-06 | 0 | 1.60159E-05 |
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 | 0.4138 | ambiguous | 0.3374 | benign | -0.82 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.477711887 | None | None | N |
| G/C | 0.6234 | likely_pathogenic | 0.5513 | ambiguous | -0.967 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.525316382 | None | None | N |
| G/D | 0.7062 | likely_pathogenic | 0.6423 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.476991098 | None | None | N |
| G/E | 0.6244 | likely_pathogenic | 0.5401 | ambiguous | -1.898 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/F | 0.9348 | likely_pathogenic | 0.9023 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/H | 0.8995 | likely_pathogenic | 0.8582 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.8646 | likely_pathogenic | 0.7905 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/K | 0.9089 | likely_pathogenic | 0.8675 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/L | 0.8356 | likely_pathogenic | 0.763 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.8629 | likely_pathogenic | 0.8112 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/N | 0.7627 | likely_pathogenic | 0.6883 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| G/P | 0.9865 | likely_pathogenic | 0.9812 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/Q | 0.755 | likely_pathogenic | 0.6856 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/R | 0.8264 | likely_pathogenic | 0.7557 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.46621377 | None | None | N |
| G/S | 0.2235 | likely_benign | 0.1846 | benign | -1.467 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.517305366 | None | None | N |
| G/T | 0.4914 | ambiguous | 0.4258 | ambiguous | -1.369 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.7513 | likely_pathogenic | 0.6451 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.473952905 | None | None | N |
| G/W | 0.9155 | likely_pathogenic | 0.8771 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.9035 | likely_pathogenic | 0.8587 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.784 | deleterious | 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.