Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17021 | 51286;51287;51288 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| N2AB | 15380 | 46363;46364;46365 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| N2A | 14453 | 43582;43583;43584 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| N2B | 7956 | 24091;24092;24093 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| Novex-1 | 8081 | 24466;24467;24468 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| Novex-2 | 8148 | 24667;24668;24669 | chr2:178611068;178611067;178611066 | chr2:179475795;179475794;179475793 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs760244297  |
-0.447 | 1.0 | D | 0.583 | 0.751 | 0.451023696535 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 1.45079E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| D/E | rs760244297 |
-0.447 | 1.0 | D | 0.583 | 0.751 | 0.451023696535 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 1.96773E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs760244297 |
-0.447 | 1.0 | D | 0.583 | 0.751 | 0.451023696535 | gnomAD-4.0.0 | 1.67418E-05 | None | None | None | None | N | None | 1.33633E-05 | 1.33462E-04 | None | 0 | 0 | None | 0 | 0 | 1.35684E-05 | 0 | 3.20472E-05 |
| D/G | rs1353851775 |
-1.223 | 1.0 | D | 0.781 | 0.834 | 0.609343871639 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/G | rs1353851775 |
-1.223 | 1.0 | D | 0.781 | 0.834 | 0.609343871639 | gnomAD-4.0.0 | 6.84576E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15985E-05 | 0 |
| D/V | None | None | 1.0 | D | 0.857 | 0.834 | 0.895635020298 | gnomAD-4.0.0 | 1.36915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99878E-07 | 0 | 1.65788E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9817 | likely_pathogenic | 0.9836 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.732062484 | None | None | N |
| D/C | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.9435 | likely_pathogenic | 0.9504 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.664405407 | None | None | N |
| D/F | 0.9965 | likely_pathogenic | 0.9972 | pathogenic | 0.68 | Stabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| D/G | 0.9842 | likely_pathogenic | 0.985 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.787900143 | None | None | N |
| D/H | 0.9766 | likely_pathogenic | 0.9785 | pathogenic | 0.562 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.629105723 | None | None | N |
| D/I | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | 1.014 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/K | 0.9961 | likely_pathogenic | 0.9958 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/L | 0.9927 | likely_pathogenic | 0.9943 | pathogenic | 1.014 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/M | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | 1.238 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/N | 0.8906 | likely_pathogenic | 0.9228 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.718431217 | None | None | N |
| D/P | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | 0.697 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Q | 0.9936 | likely_pathogenic | 0.9941 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/R | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | 0.477 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.9612 | likely_pathogenic | 0.9667 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/T | 0.9892 | likely_pathogenic | 0.9905 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.9837 | likely_pathogenic | 0.9871 | pathogenic | 0.697 | Stabilizing | 1.0 | D | 0.857 | deleterious | D | 0.787873268 | None | None | N |
| D/W | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | 0.897 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/Y | 0.9784 | likely_pathogenic | 0.9832 | pathogenic | 0.98 | Stabilizing | 1.0 | D | 0.865 | deleterious | D | 0.787968187 | 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.