Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23803 | 71632;71633;71634 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| N2AB | 22162 | 66709;66710;66711 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| N2A | 21235 | 63928;63929;63930 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| N2B | 14738 | 44437;44438;44439 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| Novex-1 | 14863 | 44812;44813;44814 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| Novex-2 | 14930 | 45013;45014;45015 | chr2:178574725;178574724;178574723 | chr2:179439452;179439451;179439450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs772111329  |
-2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11807E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs772111329 |
-2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs772111329 |
-2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-4.0.0 | 2.56415E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.43013E-05 | None | 0 | 0 | 0 | 1.34163E-05 | 0 |
| A/V | rs1553611543 |
None | 0.989 | D | 0.72 | 0.621 | 0.709716954598 | gnomAD-4.0.0 | 4.79098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2976E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9141 | likely_pathogenic | 0.8641 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/D | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.857 | Highly Destabilizing | 0.997 | D | 0.817 | deleterious | D | 0.56581294 | None | None | N |
| A/E | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -2.64 | Highly Destabilizing | 0.998 | D | 0.803 | deleterious | None | None | None | None | N |
| A/F | 0.9958 | likely_pathogenic | 0.9947 | pathogenic | -0.817 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| A/G | 0.3953 | ambiguous | 0.4449 | ambiguous | -2.389 | Highly Destabilizing | 0.117 | N | 0.381 | neutral | D | 0.525045299 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/I | 0.9903 | likely_pathogenic | 0.9855 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.632 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| A/L | 0.9596 | likely_pathogenic | 0.9589 | pathogenic | -0.901 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| A/M | 0.9821 | likely_pathogenic | 0.978 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.9946 | likely_pathogenic | 0.9938 | pathogenic | -2.053 | Highly Destabilizing | 0.995 | D | 0.814 | deleterious | None | None | None | None | N |
| A/P | 0.9582 | likely_pathogenic | 0.9658 | pathogenic | -1.24 | Destabilizing | 0.999 | D | 0.816 | deleterious | D | 0.533883617 | None | None | N |
| A/Q | 0.9936 | likely_pathogenic | 0.9933 | pathogenic | -1.776 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -1.652 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| A/S | 0.386 | ambiguous | 0.3348 | benign | -2.392 | Highly Destabilizing | 0.977 | D | 0.588 | neutral | D | 0.528284076 | None | None | N |
| A/T | 0.9125 | likely_pathogenic | 0.8898 | pathogenic | -2.081 | Highly Destabilizing | 0.997 | D | 0.769 | deleterious | D | 0.539044497 | None | None | N |
| A/V | 0.9391 | likely_pathogenic | 0.9182 | pathogenic | -1.24 | Destabilizing | 0.989 | D | 0.72 | prob.delet. | D | 0.540818923 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/Y | 0.9976 | likely_pathogenic | 0.997 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.855 | 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.