Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20747 | 62464;62465;62466 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| N2AB | 19106 | 57541;57542;57543 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| N2A | 18179 | 54760;54761;54762 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| N2B | 11682 | 35269;35270;35271 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| Novex-1 | 11807 | 35644;35645;35646 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| Novex-2 | 11874 | 35845;35846;35847 | chr2:178589486;178589485;178589484 | chr2:179454213;179454212;179454211 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs2049763633  |
None | 0.958 | D | 0.689 | 0.391 | 0.237489013734 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs2049763633 |
None | 0.958 | D | 0.689 | 0.391 | 0.237489013734 | gnomAD-4.0.0 | 6.57929E-06 | None | None | None | None | N | None | 0 | 6.5591E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs1211138085 |
-0.23 | 0.958 | N | 0.669 | 0.426 | 0.391470661076 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| N/T | rs1211138085 |
-0.23 | 0.958 | N | 0.669 | 0.426 | 0.391470661076 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| N/T | rs1211138085 |
-0.23 | 0.958 | N | 0.669 | 0.426 | 0.391470661076 | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.41442E-05 | 0 | 0 | 0 | 0 |
| N/Y | rs2049764957 |
None | 0.998 | D | 0.789 | 0.49 | 0.489174143269 | 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 |
| N/Y | rs2049764957 |
None | 0.998 | D | 0.789 | 0.49 | 0.489174143269 | gnomAD-4.0.0 | 6.57661E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47119E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9986 | likely_pathogenic | 0.9975 | pathogenic | 0.318 | Stabilizing | 0.968 | D | 0.759 | deleterious | None | None | None | None | N |
| N/C | 0.9858 | likely_pathogenic | 0.9829 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/D | 0.9965 | likely_pathogenic | 0.9944 | pathogenic | -2.358 | Highly Destabilizing | 0.067 | N | 0.322 | neutral | D | 0.533904892 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.219 | Highly Destabilizing | 0.938 | D | 0.555 | neutral | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| N/G | 0.9949 | likely_pathogenic | 0.9921 | pathogenic | 0.083 | Stabilizing | 0.968 | D | 0.533 | neutral | None | None | None | None | N |
| N/H | 0.9939 | likely_pathogenic | 0.9909 | pathogenic | 0.08 | Stabilizing | 0.998 | D | 0.724 | prob.delet. | D | 0.53491885 | None | None | N |
| N/I | 0.9978 | likely_pathogenic | 0.9955 | pathogenic | 0.867 | Stabilizing | 0.994 | D | 0.811 | deleterious | D | 0.535425829 | None | None | N |
| N/K | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | 0.378 | Stabilizing | 0.958 | D | 0.689 | prob.neutral | D | 0.534158381 | None | None | N |
| N/L | 0.9957 | likely_pathogenic | 0.993 | pathogenic | 0.867 | Stabilizing | 0.995 | D | 0.811 | deleterious | None | None | None | None | N |
| N/M | 0.9964 | likely_pathogenic | 0.994 | pathogenic | 0.826 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | 0.713 | Stabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.671 | Destabilizing | 0.995 | D | 0.767 | deleterious | None | None | None | None | N |
| N/R | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | 0.379 | Stabilizing | 0.995 | D | 0.769 | deleterious | None | None | None | None | N |
| N/S | 0.9741 | likely_pathogenic | 0.9637 | pathogenic | -0.329 | Destabilizing | 0.958 | D | 0.541 | neutral | N | 0.520013691 | None | None | N |
| N/T | 0.9888 | likely_pathogenic | 0.9827 | pathogenic | -0.074 | Destabilizing | 0.958 | D | 0.669 | neutral | N | 0.504436969 | None | None | N |
| N/V | 0.9965 | likely_pathogenic | 0.9937 | pathogenic | 0.713 | Stabilizing | 0.995 | D | 0.813 | deleterious | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Y | 0.9962 | likely_pathogenic | 0.9935 | pathogenic | 0.359 | Stabilizing | 0.998 | D | 0.789 | deleterious | D | 0.535172339 | 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.