Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26018 | 78277;78278;78279 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| N2AB | 24377 | 73354;73355;73356 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| N2A | 23450 | 70573;70574;70575 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| N2B | 16953 | 51082;51083;51084 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| Novex-1 | 17078 | 51457;51458;51459 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| Novex-2 | 17145 | 51658;51659;51660 | chr2:178568080;178568079;178568078 | chr2:179432807;179432806;179432805 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1706620113  |
None | 1.0 | D | 0.804 | 0.602 | 0.337868961071 | gnomAD-4.0.0 | 1.59206E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7787E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9243 | likely_pathogenic | 0.9333 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.520072462 | None | None | I |
| G/C | 0.9773 | likely_pathogenic | 0.9793 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.55080047 | None | None | I |
| G/D | 0.9939 | likely_pathogenic | 0.9952 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.537416249 | None | None | I |
| G/E | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/F | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/K | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/L | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/M | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9909 | likely_pathogenic | 0.9911 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/Q | 0.9957 | likely_pathogenic | 0.9961 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.9895 | likely_pathogenic | 0.9918 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.530921789 | None | None | I |
| G/S | 0.9018 | likely_pathogenic | 0.9096 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.525806454 | None | None | I |
| G/T | 0.9908 | likely_pathogenic | 0.9933 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/V | 0.9942 | likely_pathogenic | 0.9959 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.518617658 | None | None | I |
| G/W | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
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.