Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26165 | 78718;78719;78720 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| N2AB | 24524 | 73795;73796;73797 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| N2A | 23597 | 71014;71015;71016 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| N2B | 17100 | 51523;51524;51525 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| Novex-1 | 17225 | 51898;51899;51900 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| Novex-2 | 17292 | 52099;52100;52101 | chr2:178567639;178567638;178567637 | chr2:179432366;179432365;179432364 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs886039080  |
-1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/T | rs886039080 |
-1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs886039080 |
-1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-4.0.0 | 9.92483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23284E-05 | None | 0 | 0 | 1.18765E-05 | 0 | 1.60287E-05 |
| A/V | rs2154166413 |
None | 0.919 | D | 0.65 | 0.642 | 0.735708620882 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs2154166413 |
None | 0.919 | D | 0.65 | 0.642 | 0.735708620882 | gnomAD-4.0.0 | 1.86073E-06 | None | None | None | None | N | None | 4.00053E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9174 | likely_pathogenic | 0.8745 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.941 | Highly Destabilizing | 0.991 | D | 0.777 | deleterious | None | None | None | None | N |
| A/E | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -2.718 | Highly Destabilizing | 0.988 | D | 0.759 | deleterious | D | 0.582640202 | None | None | N |
| A/F | 0.9953 | likely_pathogenic | 0.9932 | pathogenic | -0.913 | Destabilizing | 0.995 | D | 0.836 | deleterious | None | None | None | None | N |
| A/G | 0.6198 | likely_pathogenic | 0.6019 | pathogenic | -2.059 | Highly Destabilizing | 0.958 | D | 0.638 | neutral | D | 0.54259335 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/I | 0.9887 | likely_pathogenic | 0.9828 | pathogenic | -0.287 | Destabilizing | 0.991 | D | 0.775 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.511 | Destabilizing | 0.991 | D | 0.773 | deleterious | None | None | None | None | N |
| A/L | 0.9491 | likely_pathogenic | 0.9381 | pathogenic | -0.287 | Destabilizing | 0.938 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/M | 0.9826 | likely_pathogenic | 0.9744 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/N | 0.9976 | likely_pathogenic | 0.9963 | pathogenic | -1.957 | Destabilizing | 0.991 | D | 0.783 | deleterious | None | None | None | None | N |
| A/P | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -0.681 | Destabilizing | 0.994 | D | 0.78 | deleterious | D | 0.564028968 | None | None | N |
| A/Q | 0.9949 | likely_pathogenic | 0.9933 | pathogenic | -1.732 | Destabilizing | 0.995 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.567 | Destabilizing | 0.991 | D | 0.786 | deleterious | None | None | None | None | N |
| A/S | 0.4502 | ambiguous | 0.3808 | ambiguous | -2.36 | Highly Destabilizing | 0.919 | D | 0.623 | neutral | D | 0.522741122 | None | None | N |
| A/T | 0.8732 | likely_pathogenic | 0.8266 | pathogenic | -2.013 | Highly Destabilizing | 0.142 | N | 0.406 | neutral | D | 0.554874708 | None | None | N |
| A/V | 0.9309 | likely_pathogenic | 0.9029 | pathogenic | -0.681 | Destabilizing | 0.919 | D | 0.65 | neutral | D | 0.549025358 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.836 | 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.