Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18483 | 55672;55673;55674 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| N2AB | 16842 | 50749;50750;50751 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| N2A | 15915 | 47968;47969;47970 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| N2B | 9418 | 28477;28478;28479 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| Novex-1 | 9543 | 28852;28853;28854 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| Novex-2 | 9610 | 29053;29054;29055 | chr2:178601550;178601549;178601548 | chr2:179466277;179466276;179466275 |
| 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 | rs1416386473  |
-0.893 | 0.955 | D | 0.891 | 0.735 | 0.791000362869 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1416386473 |
-0.893 | 0.955 | D | 0.891 | 0.735 | 0.791000362869 | gnomAD-4.0.0 | 2.05585E-06 | None | None | None | None | N | None | 5.99413E-05 | 2.24155E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1394478357 |
None | 0.997 | D | 0.853 | 0.766 | 0.656181449677 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1394478357 |
None | 0.997 | D | 0.853 | 0.766 | 0.656181449677 | gnomAD-4.0.0 | 2.56966E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80157E-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 | 0.4931 | ambiguous | 0.5875 | pathogenic | -2.449 | Highly Destabilizing | 0.977 | D | 0.827 | deleterious | D | 0.585136628 | None | None | N |
| P/C | 0.7102 | likely_pathogenic | 0.7393 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -3.444 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| P/E | 0.9959 | likely_pathogenic | 0.998 | pathogenic | -3.172 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -1.32 | Destabilizing | 0.999 | D | 0.941 | deleterious | None | None | None | None | N |
| P/G | 0.9811 | likely_pathogenic | 0.9893 | pathogenic | -2.997 | Highly Destabilizing | 0.999 | D | 0.906 | deleterious | None | None | None | None | N |
| P/H | 0.9969 | likely_pathogenic | 0.9983 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.645176191 | None | None | N |
| P/I | 0.6252 | likely_pathogenic | 0.682 | pathogenic | -0.863 | Destabilizing | 0.483 | N | 0.793 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -2.122 | Highly Destabilizing | 0.998 | D | 0.866 | deleterious | None | None | None | None | N |
| P/L | 0.7599 | likely_pathogenic | 0.7873 | pathogenic | -0.863 | Destabilizing | 0.955 | D | 0.891 | deleterious | D | 0.644772583 | None | None | N |
| P/M | 0.9336 | likely_pathogenic | 0.9532 | pathogenic | -1.057 | Destabilizing | 0.999 | D | 0.938 | deleterious | None | None | None | None | N |
| P/N | 0.9966 | likely_pathogenic | 0.9984 | pathogenic | -2.625 | Highly Destabilizing | 0.999 | D | 0.925 | deleterious | None | None | None | None | N |
| P/Q | 0.9907 | likely_pathogenic | 0.9951 | pathogenic | -2.37 | Highly Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| P/R | 0.9944 | likely_pathogenic | 0.9966 | pathogenic | -1.998 | Destabilizing | 0.999 | D | 0.93 | deleterious | D | 0.628955026 | None | None | N |
| P/S | 0.9402 | likely_pathogenic | 0.9672 | pathogenic | -3.141 | Highly Destabilizing | 0.997 | D | 0.853 | deleterious | D | 0.612501696 | None | None | N |
| P/T | 0.761 | likely_pathogenic | 0.8567 | pathogenic | -2.739 | Highly Destabilizing | 0.993 | D | 0.848 | deleterious | D | 0.628955026 | None | None | N |
| P/V | 0.3086 | likely_benign | 0.367 | ambiguous | -1.373 | Destabilizing | 0.966 | D | 0.867 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.947 | 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.