Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29534 | 88825;88826;88827 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| N2AB | 27893 | 83902;83903;83904 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| N2A | 26966 | 81121;81122;81123 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| N2B | 20469 | 61630;61631;61632 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| Novex-1 | 20594 | 62005;62006;62007 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| Novex-2 | 20661 | 62206;62207;62208 | chr2:178554747;178554746;178554745 | chr2:179419474;179419473;179419472 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs760009798  |
0.053 | 1.0 | D | 0.859 | 0.711 | 0.938341687904 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/L | rs760009798 |
0.053 | 1.0 | D | 0.859 | 0.711 | 0.938341687904 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.834 | 0.735 | 0.80337262146 | gnomAD-4.0.0 | 4.10614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.397E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.788 | likely_pathogenic | 0.8536 | pathogenic | -1.664 | Destabilizing | 0.999 | D | 0.819 | deleterious | D | 0.639093447 | None | None | N |
| P/C | 0.9766 | likely_pathogenic | 0.9895 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -3.373 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9977 | pathogenic | -3.287 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/G | 0.99 | likely_pathogenic | 0.9938 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.9979 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/I | 0.9749 | likely_pathogenic | 0.9844 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/L | 0.9413 | likely_pathogenic | 0.9614 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.639497056 | None | None | N |
| P/M | 0.9911 | likely_pathogenic | 0.9949 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Q | 0.9944 | likely_pathogenic | 0.9968 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.681256333 | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.9948 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.665035168 | None | None | N |
| P/S | 0.9796 | likely_pathogenic | 0.988 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.664833363 | None | None | N |
| P/T | 0.9571 | likely_pathogenic | 0.9755 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.655748582 | None | None | N |
| P/V | 0.9345 | likely_pathogenic | 0.9571 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.848 | 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.