Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9145 | 27658;27659;27660 | chr2:178712489;178712488;178712487 | chr2:179577216;179577215;179577214 |
| N2AB | 8828 | 26707;26708;26709 | chr2:178712489;178712488;178712487 | chr2:179577216;179577215;179577214 |
| N2A | 7901 | 23926;23927;23928 | chr2:178712489;178712488;178712487 | chr2:179577216;179577215;179577214 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1284458172  |
None | 1.0 | D | 0.757 | 0.823 | 0.746058035586 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1284458172 |
None | 1.0 | D | 0.757 | 0.823 | 0.746058035586 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 5.65547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9946 | likely_pathogenic | 0.9938 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| W/C | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.715602343 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.144 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/F | 0.5982 | likely_pathogenic | 0.662 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/G | 0.9867 | likely_pathogenic | 0.9836 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.715400539 | None | None | N |
| W/H | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| W/I | 0.9577 | likely_pathogenic | 0.9602 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/L | 0.9087 | likely_pathogenic | 0.9032 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.690094592 | None | None | N |
| W/M | 0.9795 | likely_pathogenic | 0.9798 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.217 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.014 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.715602343 | None | None | N |
| W/S | 0.9946 | likely_pathogenic | 0.993 | pathogenic | -3.356 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.715602343 | None | None | N |
| W/T | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -3.162 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/V | 0.9606 | likely_pathogenic | 0.9609 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/Y | 0.9238 | likely_pathogenic | 0.9264 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.814 | 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.