Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18555 | 55888;55889;55890 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| N2AB | 16914 | 50965;50966;50967 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| N2A | 15987 | 48184;48185;48186 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| N2B | 9490 | 28693;28694;28695 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| Novex-1 | 9615 | 29068;29069;29070 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| Novex-2 | 9682 | 29269;29270;29271 | chr2:178601334;178601333;178601332 | chr2:179466061;179466060;179466059 |
| 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/V | rs759902646  |
-0.993 | 1.0 | D | 0.72 | 0.695 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs759902646 |
-0.993 | 1.0 | D | 0.72 | 0.695 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8763 | likely_pathogenic | 0.8861 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/D | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.892 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/E | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -2.664 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.565065698 | None | None | N |
| A/F | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/G | 0.3512 | ambiguous | 0.318 | benign | -2.294 | Highly Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.520601528 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/I | 0.9895 | likely_pathogenic | 0.989 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/L | 0.9496 | likely_pathogenic | 0.9517 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/M | 0.9791 | likely_pathogenic | 0.9807 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/N | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/P | 0.9413 | likely_pathogenic | 0.8912 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.538821141 | None | None | N |
| A/Q | 0.993 | likely_pathogenic | 0.9946 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/R | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/S | 0.5391 | ambiguous | 0.5303 | ambiguous | -2.296 | Highly Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.502115198 | None | None | N |
| A/T | 0.9164 | likely_pathogenic | 0.9269 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.53838616 | None | None | N |
| A/V | 0.9342 | likely_pathogenic | 0.934 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.544933527 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.862 | 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.