Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| N2AB | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| N2A | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| N2B | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| Novex-1 | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| Novex-2 | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
| Novex-3 | 11 | 256;257;258 | chr2:178804612;178804611;178804610 | chr2:179669339;179669338;179669337 |
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/A | None | None | 0.985 | N | 0.65 | 0.392 | 0.437314048365 | gnomAD-4.0.0 | 1.36829E-06 | None | None | None | -0.897(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31959E-05 | 0 |
| P/L | rs768624416  |
-0.194 | 0.97 | N | 0.494 | 0.477 | None | gnomAD-2.1.1 | 7.97E-06 | None | None | None | -0.668(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| P/L | rs768624416 |
-0.194 | 0.97 | N | 0.494 | 0.477 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | -0.668(TCAP) | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs768624416 |
-0.194 | 0.97 | N | 0.494 | 0.477 | None | gnomAD-4.0.0 | 2.72645E-05 | None | None | None | -0.668(TCAP) | N | None | 6.67468E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.1358E-05 | 0 | 3.20195E-05 |
| P/S | rs775206165 |
-0.855 | 1.0 | N | 0.819 | 0.331 | 0.482283251092 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | -0.359(TCAP) | N | None | 0 | 2.25836E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs775206165 |
-0.855 | 1.0 | N | 0.819 | 0.331 | 0.482283251092 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.359(TCAP) | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs775206165 |
-0.855 | 1.0 | N | 0.819 | 0.331 | 0.482283251092 | gnomAD-4.0.0 | 9.29457E-06 | None | None | None | -0.359(TCAP) | N | None | 0 | 1.66683E-04 | None | 0 | 0 | None | 0 | 0 | 3.39001E-06 | 0 | 1.60102E-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 | 0.1536 | likely_benign | 0.1087 | benign | -0.967 | Destabilizing | 0.985 | D | 0.65 | neutral | N | 0.48164923 | None | -0.897(TCAP) | N |
| P/C | 0.94 | likely_pathogenic | 0.8702 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -0.201(TCAP) | N |
| P/D | 0.7879 | likely_pathogenic | 0.6215 | pathogenic | -0.326 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | -0.265(TCAP) | N |
| P/E | 0.554 | ambiguous | 0.4057 | ambiguous | -0.364 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | -0.224(TCAP) | N |
| P/F | 0.8921 | likely_pathogenic | 0.7386 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | 0.067(TCAP) | N |
| P/G | 0.6202 | likely_pathogenic | 0.4202 | ambiguous | -1.224 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | -0.981(TCAP) | N |
| P/H | 0.5336 | ambiguous | 0.3603 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | -0.491(TCAP) | N |
| P/I | 0.7046 | likely_pathogenic | 0.5371 | ambiguous | -0.396 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | -0.668(TCAP) | N |
| P/K | 0.5928 | likely_pathogenic | 0.432 | ambiguous | -0.69 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.912(TCAP) | N |
| P/L | 0.3348 | likely_benign | 0.2157 | benign | -0.396 | Destabilizing | 0.97 | D | 0.494 | neutral | N | 0.506094291 | None | -0.668(TCAP) | N |
| P/M | 0.6916 | likely_pathogenic | 0.5274 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | -0.889(TCAP) | N |
| P/N | 0.7071 | likely_pathogenic | 0.5234 | ambiguous | -0.463 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | -0.329(TCAP) | N |
| P/Q | 0.3441 | ambiguous | 0.2291 | benign | -0.638 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.500370356 | None | -0.246(TCAP) | N |
| P/R | 0.4157 | ambiguous | 0.2789 | benign | -0.209 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.473414809 | None | -1.45(TCAP) | N |
| P/S | 0.3023 | likely_benign | 0.1869 | benign | -1.009 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.507393203 | None | -0.359(TCAP) | N |
| P/T | 0.2928 | likely_benign | 0.1881 | benign | -0.932 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.468678129 | None | -0.339(TCAP) | N |
| P/V | 0.5099 | ambiguous | 0.3672 | ambiguous | -0.549 | Destabilizing | 0.997 | D | 0.738 | prob.delet. | None | None | None | -0.739(TCAP) | N |
| P/W | 0.9557 | likely_pathogenic | 0.8755 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -0.205(TCAP) | N |
| P/Y | 0.8465 | likely_pathogenic | 0.6722 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -0.141(TCAP) | 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.