Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28252 | 84979;84980;84981 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| N2AB | 26611 | 80056;80057;80058 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| N2A | 25684 | 77275;77276;77277 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| N2B | 19187 | 57784;57785;57786 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| Novex-1 | 19312 | 58159;58160;58161 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| Novex-2 | 19379 | 58360;58361;58362 | chr2:178561378;178561377;178561376 | chr2:179426105;179426104;179426103 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs780908799  |
0.259 | 0.995 | N | 0.722 | 0.468 | 0.351180957027 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/S | rs780908799 |
0.259 | 0.995 | N | 0.722 | 0.468 | 0.351180957027 | gnomAD-4.0.0 | 2.73681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59785E-06 | 0 | 0 |
| P/T | rs780908799 |
0.217 | 0.997 | D | 0.68 | 0.477 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs780908799 |
0.217 | 0.997 | D | 0.68 | 0.477 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs780908799 |
0.217 | 0.997 | D | 0.68 | 0.477 | None | gnomAD-4.0.0 | 1.31499E-05 | None | None | None | None | N | None | 4.82789E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.102 | likely_benign | 0.1014 | benign | -0.281 | Destabilizing | 0.603 | D | 0.359 | neutral | N | 0.497734564 | None | None | N |
| P/C | 0.5928 | likely_pathogenic | 0.6017 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/D | 0.7142 | likely_pathogenic | 0.7311 | pathogenic | -0.229 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/E | 0.4866 | ambiguous | 0.4789 | ambiguous | -0.346 | Destabilizing | 0.999 | D | 0.701 | prob.delet. | None | None | None | None | N |
| P/F | 0.6072 | likely_pathogenic | 0.6126 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/G | 0.5244 | ambiguous | 0.5493 | ambiguous | -0.34 | Destabilizing | 0.993 | D | 0.724 | deleterious | None | None | None | None | N |
| P/H | 0.3133 | likely_benign | 0.3135 | benign | 0.074 | Stabilizing | 1.0 | D | 0.799 | deleterious | D | 0.529983509 | None | None | N |
| P/I | 0.347 | ambiguous | 0.3423 | ambiguous | -0.27 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| P/K | 0.3926 | ambiguous | 0.3911 | ambiguous | -0.275 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/L | 0.1611 | likely_benign | 0.1543 | benign | -0.27 | Destabilizing | 0.997 | D | 0.675 | prob.neutral | N | 0.503557461 | None | None | N |
| P/M | 0.4116 | ambiguous | 0.4077 | ambiguous | -0.514 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/N | 0.5432 | ambiguous | 0.5573 | ambiguous | -0.05 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/Q | 0.2553 | likely_benign | 0.2437 | benign | -0.266 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/R | 0.2335 | likely_benign | 0.2222 | benign | 0.165 | Stabilizing | 0.999 | D | 0.799 | deleterious | N | 0.501457547 | None | None | N |
| P/S | 0.2109 | likely_benign | 0.2129 | benign | -0.377 | Destabilizing | 0.995 | D | 0.722 | deleterious | N | 0.506599335 | None | None | N |
| P/T | 0.1779 | likely_benign | 0.1732 | benign | -0.402 | Destabilizing | 0.997 | D | 0.68 | prob.neutral | D | 0.528716062 | None | None | N |
| P/V | 0.2417 | likely_benign | 0.2319 | benign | -0.246 | Destabilizing | 0.998 | D | 0.696 | prob.delet. | None | None | None | None | N |
| P/W | 0.8179 | likely_pathogenic | 0.8317 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Y | 0.6129 | likely_pathogenic | 0.6274 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.765 | 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.