Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19348 | 58267;58268;58269 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| N2AB | 17707 | 53344;53345;53346 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| N2A | 16780 | 50563;50564;50565 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| N2B | 10283 | 31072;31073;31074 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| Novex-1 | 10408 | 31447;31448;31449 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| Novex-2 | 10475 | 31648;31649;31650 | chr2:178594452;178594451;178594450 | chr2:179459179;179459178;179459177 |
| 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 | rs530742564  |
-0.323 | 0.085 | N | 0.327 | 0.148 | 0.0986583533028 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs530742564 |
-0.323 | 0.085 | N | 0.327 | 0.148 | 0.0986583533028 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/D | rs530742564 |
-0.323 | 0.085 | N | 0.327 | 0.148 | 0.0986583533028 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47119E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2277 | likely_benign | 0.1688 | benign | -0.235 | Destabilizing | 0.928 | D | 0.616 | neutral | N | 0.517771965 | None | None | N |
| G/C | 0.3982 | ambiguous | 0.3103 | benign | -0.851 | Destabilizing | 0.999 | D | 0.769 | deleterious | D | 0.541916608 | None | None | N |
| G/D | 0.1163 | likely_benign | 0.073 | benign | -0.586 | Destabilizing | 0.085 | N | 0.327 | neutral | N | 0.517209365 | None | None | N |
| G/E | 0.2492 | likely_benign | 0.1677 | benign | -0.742 | Destabilizing | 0.11 | N | 0.387 | neutral | None | None | None | None | N |
| G/F | 0.7222 | likely_pathogenic | 0.6094 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| G/H | 0.4954 | ambiguous | 0.3486 | ambiguous | -0.434 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | N |
| G/I | 0.5439 | ambiguous | 0.4308 | ambiguous | -0.365 | Destabilizing | 0.998 | D | 0.784 | deleterious | None | None | None | None | N |
| G/K | 0.6418 | likely_pathogenic | 0.4859 | ambiguous | -0.823 | Destabilizing | 0.968 | D | 0.746 | deleterious | None | None | None | None | N |
| G/L | 0.61 | likely_pathogenic | 0.4925 | ambiguous | -0.365 | Destabilizing | 0.983 | D | 0.759 | deleterious | None | None | None | None | N |
| G/M | 0.5908 | likely_pathogenic | 0.5042 | ambiguous | -0.505 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| G/N | 0.1476 | likely_benign | 0.1063 | benign | -0.443 | Destabilizing | 0.968 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/P | 0.9262 | likely_pathogenic | 0.8593 | pathogenic | -0.289 | Destabilizing | 0.992 | D | 0.755 | deleterious | None | None | None | None | N |
| G/Q | 0.4593 | ambiguous | 0.3357 | benign | -0.719 | Destabilizing | 0.968 | D | 0.745 | deleterious | None | None | None | None | N |
| G/R | 0.6313 | likely_pathogenic | 0.4731 | ambiguous | -0.365 | Destabilizing | 0.978 | D | 0.765 | deleterious | N | 0.487804426 | None | None | N |
| G/S | 0.1374 | likely_benign | 0.1036 | benign | -0.586 | Destabilizing | 0.865 | D | 0.694 | prob.neutral | N | 0.483916859 | None | None | N |
| G/T | 0.2457 | likely_benign | 0.1833 | benign | -0.672 | Destabilizing | 0.983 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/V | 0.4154 | ambiguous | 0.3087 | benign | -0.289 | Destabilizing | 0.989 | D | 0.747 | deleterious | D | 0.541663118 | None | None | N |
| G/W | 0.6559 | likely_pathogenic | 0.5209 | ambiguous | -1.091 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| G/Y | 0.5165 | ambiguous | 0.3803 | ambiguous | -0.742 | Destabilizing | 0.999 | D | 0.795 | 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.