Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30979 | 93160;93161;93162 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| N2AB | 29338 | 88237;88238;88239 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| N2A | 28411 | 85456;85457;85458 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| N2B | 21914 | 65965;65966;65967 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| Novex-1 | 22039 | 66340;66341;66342 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| Novex-2 | 22106 | 66541;66542;66543 | chr2:178548691;178548690;178548689 | chr2:179413418;179413417;179413416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1169211686  |
-1.963 | 0.999 | N | 0.673 | 0.253 | 0.151104730317 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02501E-04 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1169211686 |
-1.963 | 0.999 | N | 0.673 | 0.253 | 0.151104730317 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1169211686 |
-1.963 | 0.999 | N | 0.673 | 0.253 | 0.151104730317 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1430466843 |
-0.566 | 0.999 | N | 0.701 | 0.163 | 0.144782658237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1430466843 |
-0.566 | 0.999 | N | 0.701 | 0.163 | 0.144782658237 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1798 | likely_benign | 0.1653 | benign | -1.251 | Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | N |
| S/C | 0.2085 | likely_benign | 0.1646 | benign | -0.336 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.494670861 | None | None | N |
| S/D | 0.988 | likely_pathogenic | 0.9853 | pathogenic | -1.746 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| S/E | 0.9944 | likely_pathogenic | 0.9935 | pathogenic | -1.442 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| S/F | 0.9481 | likely_pathogenic | 0.9395 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/G | 0.4785 | ambiguous | 0.4162 | ambiguous | -1.652 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.480048126 | None | None | N |
| S/H | 0.9662 | likely_pathogenic | 0.9598 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| S/I | 0.7692 | likely_pathogenic | 0.7383 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.466656799 | None | None | N |
| S/K | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | 0.27 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/L | 0.5084 | ambiguous | 0.4777 | ambiguous | -0.152 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| S/M | 0.6809 | likely_pathogenic | 0.664 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| S/N | 0.8944 | likely_pathogenic | 0.8676 | pathogenic | -0.64 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | N | 0.502559626 | None | None | N |
| S/P | 0.9901 | likely_pathogenic | 0.9856 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| S/Q | 0.9857 | likely_pathogenic | 0.9834 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/R | 0.9974 | likely_pathogenic | 0.9966 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.509504241 | None | None | N |
| S/T | 0.0808 | likely_benign | 0.0811 | benign | -0.262 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.39820032 | None | None | N |
| S/V | 0.6111 | likely_pathogenic | 0.5671 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| S/W | 0.9816 | likely_pathogenic | 0.9767 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| S/Y | 0.9532 | likely_pathogenic | 0.9432 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.857 | 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.