Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| N2AB | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| N2A | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| N2B | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| Novex-1 | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| Novex-2 | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
| Novex-3 | 6 | 241;242;243 | chr2:178804627;178804626;178804625 | chr2:179669354;179669353;179669352 |
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 | rs201490999  |
-0.477 | 1.0 | D | 0.885 | 0.556 | 0.94644319945 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | -1.449(TCAP) | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| P/L | rs201490999 |
-0.477 | 1.0 | D | 0.885 | 0.556 | 0.94644319945 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -1.449(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs201490999 |
-0.477 | 1.0 | D | 0.885 | 0.556 | 0.94644319945 | gnomAD-4.0.0 | 3.53224E-05 | None | None | None | -1.449(TCAP) | N | None | 4.00598E-05 | 1.66728E-05 | None | 0 | 0 | None | 0 | 0 | 4.40718E-05 | 0 | 1.60092E-05 |
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 | 0.7188 | likely_pathogenic | 0.686 | pathogenic | -1.457 | Destabilizing | 0.994 | D | 0.782 | deleterious | D | 0.759726493 | None | -1.008(TCAP) | N |
| P/C | 0.9944 | likely_pathogenic | 0.9924 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -1.405(TCAP) | N |
| P/D | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.593 | Destabilizing | 0.993 | D | 0.887 | deleterious | None | None | None | -1.445(TCAP) | N |
| P/E | 0.9938 | likely_pathogenic | 0.9924 | pathogenic | -1.597 | Destabilizing | 0.996 | D | 0.878 | deleterious | None | None | None | -1.638(TCAP) | N |
| P/F | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | -0.996(TCAP) | N |
| P/G | 0.9812 | likely_pathogenic | 0.9797 | pathogenic | -1.732 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | -0.879(TCAP) | N |
| P/H | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -0.812(TCAP) | N |
| P/I | 0.9817 | likely_pathogenic | 0.9774 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | -1.449(TCAP) | N |
| P/K | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | -1.995(TCAP) | N |
| P/L | 0.942 | likely_pathogenic | 0.933 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.786021791 | None | -1.449(TCAP) | N |
| P/M | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | -1.337(TCAP) | N |
| P/N | 0.9965 | likely_pathogenic | 0.9958 | pathogenic | -0.974 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | -1.298(TCAP) | N |
| P/Q | 0.9891 | likely_pathogenic | 0.987 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.837494755 | None | -1.428(TCAP) | N |
| P/R | 0.9866 | likely_pathogenic | 0.9845 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.837494755 | None | -2.095(TCAP) | N |
| P/S | 0.9585 | likely_pathogenic | 0.9522 | pathogenic | -1.515 | Destabilizing | 0.972 | D | 0.702 | prob.neutral | D | 0.771512713 | None | -1.038(TCAP) | N |
| P/T | 0.9497 | likely_pathogenic | 0.9436 | pathogenic | -1.41 | Destabilizing | 0.999 | D | 0.874 | deleterious | D | 0.838045076 | None | -1.235(TCAP) | N |
| P/V | 0.9369 | likely_pathogenic | 0.926 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | -1.295(TCAP) | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -1.103(TCAP) | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | -0.992(TCAP) | 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.