Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9205 | 27838;27839;27840 | chr2:178712217;178712216;178712215 | chr2:179576944;179576943;179576942 |
| N2AB | 8888 | 26887;26888;26889 | chr2:178712217;178712216;178712215 | chr2:179576944;179576943;179576942 |
| N2A | 7961 | 24106;24107;24108 | chr2:178712217;178712216;178712215 | chr2:179576944;179576943;179576942 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs758238716  |
0.051 | 1.0 | D | 0.884 | 0.774 | 0.914536145376 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| P/L | rs758238716 |
0.051 | 1.0 | D | 0.884 | 0.774 | 0.914536145376 | gnomAD-4.0.0 | 2.4805E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.12764E-05 | 0 | 1.69626E-06 | 0 | 0 |
| P/S | rs1216622524 |
None | 1.0 | D | 0.895 | 0.801 | 0.689703077716 | 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 | rs1216622524 |
None | 1.0 | D | 0.895 | 0.801 | 0.689703077716 | gnomAD-4.0.0 | 1.24025E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69629E-06 | 0 | 0 |
| P/T | rs1216622524 |
None | 1.0 | D | 0.891 | 0.821 | 0.829472311377 | gnomAD-4.0.0 | 6.84692E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6575E-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 | 0.6329 | likely_pathogenic | 0.6857 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.606101091 | None | None | N |
| P/C | 0.9791 | likely_pathogenic | 0.9796 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/E | 0.9945 | likely_pathogenic | 0.9969 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/F | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/G | 0.9848 | likely_pathogenic | 0.9871 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/H | 0.9924 | likely_pathogenic | 0.9955 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/I | 0.9491 | likely_pathogenic | 0.9494 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/K | 0.996 | likely_pathogenic | 0.998 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/L | 0.8673 | likely_pathogenic | 0.8778 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.643883208 | None | None | N |
| P/M | 0.9854 | likely_pathogenic | 0.9877 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9957 | likely_pathogenic | 0.9974 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.9887 | likely_pathogenic | 0.9936 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.644085012 | None | None | N |
| P/R | 0.986 | likely_pathogenic | 0.9915 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.644085012 | None | None | N |
| P/S | 0.946 | likely_pathogenic | 0.9609 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.627662043 | None | None | N |
| P/T | 0.9255 | likely_pathogenic | 0.9474 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.643883208 | None | None | N |
| P/V | 0.8791 | likely_pathogenic | 0.8835 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.89 | 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.