Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28892 | 86899;86900;86901 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| N2AB | 27251 | 81976;81977;81978 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| N2A | 26324 | 79195;79196;79197 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| N2B | 19827 | 59704;59705;59706 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| Novex-1 | 19952 | 60079;60080;60081 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| Novex-2 | 20019 | 60280;60281;60282 | chr2:178559458;178559457;178559456 | chr2:179424185;179424184;179424183 |
| 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 | rs779407441  |
-1.115 | 1.0 | D | 0.713 | 0.548 | 0.784797514196 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/C | rs779407441 |
-1.115 | 1.0 | D | 0.713 | 0.548 | 0.784797514196 | gnomAD-4.0.0 | 1.11401E-05 | None | None | None | None | N | None | 0 | 1.14317E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86615E-05 | 0 |
| W/L | None | None | 1.0 | D | 0.685 | 0.511 | 0.846230486023 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| W/R | rs772076860 |
-0.908 | 1.0 | N | 0.775 | 0.611 | 0.736017899247 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs772076860 |
-0.908 | 1.0 | N | 0.775 | 0.611 | 0.736017899247 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82731E-05 | 0 | None | 0 | 0 | 0 | 1.15947E-05 | 0 |
| W/S | rs745896785 |
-2.029 | 1.0 | N | 0.783 | 0.553 | 0.860290398114 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| W/S | rs745896785 |
-2.029 | 1.0 | N | 0.783 | 0.553 | 0.860290398114 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/S | rs745896785 |
-2.029 | 1.0 | N | 0.783 | 0.553 | 0.860290398114 | gnomAD-4.0.0 | 6.19722E-06 | None | None | None | None | N | None | 2.6703E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9916 | likely_pathogenic | 0.9893 | pathogenic | -3.139 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/C | 0.995 | likely_pathogenic | 0.9943 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.537762325 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/F | 0.4838 | ambiguous | 0.4789 | ambiguous | -1.99 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/G | 0.9824 | likely_pathogenic | 0.9791 | pathogenic | -3.325 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.518644112 | None | None | N |
| W/H | 0.9934 | likely_pathogenic | 0.9924 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/I | 0.9905 | likely_pathogenic | 0.9892 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/L | 0.9605 | likely_pathogenic | 0.9548 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.535987898 | None | None | N |
| W/M | 0.9908 | likely_pathogenic | 0.989 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/N | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/P | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -2.7 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/R | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.519151091 | None | None | N |
| W/S | 0.986 | likely_pathogenic | 0.9824 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.517123175 | None | None | N |
| W/T | 0.9946 | likely_pathogenic | 0.993 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/V | 0.9852 | likely_pathogenic | 0.9828 | pathogenic | -2.7 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/Y | 0.6487 | likely_pathogenic | 0.6662 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.612 | neutral | 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.