Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18583 | 55972;55973;55974 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| N2AB | 16942 | 51049;51050;51051 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| N2A | 16015 | 48268;48269;48270 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| N2B | 9518 | 28777;28778;28779 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| Novex-1 | 9643 | 29152;29153;29154 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| Novex-2 | 9710 | 29353;29354;29355 | chr2:178601157;178601156;178601155 | chr2:179465884;179465883;179465882 |
| 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 | rs1559684715  |
None | 1.0 | D | 0.893 | 0.735 | 0.858361849104 | gnomAD-4.0.0 | 1.84121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.86428E-05 | 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 | 0.8711 | likely_pathogenic | 0.8655 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.525052662 | None | None | N |
| P/C | 0.9808 | likely_pathogenic | 0.9861 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.255 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/G | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -2.858 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.586 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.566883485 | None | None | N |
| P/I | 0.9478 | likely_pathogenic | 0.9408 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9503 | likely_pathogenic | 0.9416 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.553752753 | None | None | N |
| P/M | 0.9921 | likely_pathogenic | 0.9915 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/R | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.566376506 | None | None | N |
| P/S | 0.9887 | likely_pathogenic | 0.9886 | pathogenic | -2.772 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.555273691 | None | None | N |
| P/T | 0.9712 | likely_pathogenic | 0.9718 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.565869527 | None | None | N |
| P/V | 0.833 | likely_pathogenic | 0.8165 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.914 | 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.