Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13970 | 42133;42134;42135 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| N2AB | 12329 | 37210;37211;37212 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| N2A | 11402 | 34429;34430;34431 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| N2B | 4905 | 14938;14939;14940 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| Novex-1 | 5030 | 15313;15314;15315 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| Novex-2 | 5097 | 15514;15515;15516 | chr2:178635281;178635280;178635279 | chr2:179500008;179500007;179500006 |
| 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/Q | rs1347182960  |
-0.501 | 0.977 | N | 0.789 | 0.402 | 0.258283824007 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/Q | rs1347182960 |
-0.501 | 0.977 | N | 0.789 | 0.402 | 0.258283824007 | 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 |
| P/Q | rs1347182960 |
-0.501 | 0.977 | N | 0.789 | 0.402 | 0.258283824007 | gnomAD-4.0.0 | 2.56446E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78934E-06 | 0 | 0 |
| P/S | rs189799340 |
-0.773 | 0.912 | N | 0.809 | 0.286 | None | gnomAD-2.1.1 | 1.07296E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.54927E-03 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs189799340 |
-0.773 | 0.912 | N | 0.809 | 0.286 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 9.67867E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs189799340 |
-0.773 | 0.912 | N | 0.809 | 0.286 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| P/S | rs189799340 |
-0.773 | 0.912 | N | 0.809 | 0.286 | None | gnomAD-4.0.0 | 1.7977E-05 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 5.81265E-04 | None | 0 | 0 | 0 | 0 | 3.20256E-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 | 0.3239 | likely_benign | 0.2049 | benign | -0.978 | Destabilizing | 0.748 | D | 0.704 | prob.delet. | N | 0.472079038 | None | None | N |
| P/C | 0.956 | likely_pathogenic | 0.9214 | pathogenic | -0.698 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| P/D | 0.8574 | likely_pathogenic | 0.7427 | pathogenic | -0.585 | Destabilizing | 0.965 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.761 | likely_pathogenic | 0.5682 | pathogenic | -0.66 | Destabilizing | 0.965 | D | 0.796 | deleterious | None | None | None | None | N |
| P/F | 0.974 | likely_pathogenic | 0.9412 | pathogenic | -0.92 | Destabilizing | 0.995 | D | 0.815 | deleterious | None | None | None | None | N |
| P/G | 0.6998 | likely_pathogenic | 0.5336 | ambiguous | -1.193 | Destabilizing | 0.965 | D | 0.712 | prob.delet. | None | None | None | None | N |
| P/H | 0.768 | likely_pathogenic | 0.6004 | pathogenic | -0.722 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| P/I | 0.9348 | likely_pathogenic | 0.8572 | pathogenic | -0.533 | Destabilizing | 0.965 | D | 0.799 | deleterious | None | None | None | None | N |
| P/K | 0.7985 | likely_pathogenic | 0.5982 | pathogenic | -0.786 | Destabilizing | 0.965 | D | 0.8 | deleterious | None | None | None | None | N |
| P/L | 0.7382 | likely_pathogenic | 0.5622 | ambiguous | -0.533 | Destabilizing | 0.912 | D | 0.737 | deleterious | N | 0.51268902 | None | None | N |
| P/M | 0.9095 | likely_pathogenic | 0.8075 | pathogenic | -0.433 | Destabilizing | 0.995 | D | 0.811 | deleterious | None | None | None | None | N |
| P/N | 0.8328 | likely_pathogenic | 0.669 | pathogenic | -0.488 | Destabilizing | 0.965 | D | 0.749 | deleterious | None | None | None | None | N |
| P/Q | 0.6649 | likely_pathogenic | 0.4315 | ambiguous | -0.731 | Destabilizing | 0.977 | D | 0.789 | deleterious | N | 0.511913937 | None | None | N |
| P/R | 0.7021 | likely_pathogenic | 0.5032 | ambiguous | -0.242 | Destabilizing | 0.954 | D | 0.793 | deleterious | N | 0.431561861 | None | None | N |
| P/S | 0.5765 | likely_pathogenic | 0.3725 | ambiguous | -0.934 | Destabilizing | 0.912 | D | 0.809 | deleterious | N | 0.448807887 | None | None | N |
| P/T | 0.611 | likely_pathogenic | 0.3909 | ambiguous | -0.909 | Destabilizing | 0.041 | N | 0.385 | neutral | N | 0.418019161 | None | None | N |
| P/V | 0.8347 | likely_pathogenic | 0.6925 | pathogenic | -0.646 | Destabilizing | 0.932 | D | 0.684 | prob.delet. | None | None | None | None | N |
| P/W | 0.9874 | likely_pathogenic | 0.9738 | pathogenic | -1.009 | Destabilizing | 0.998 | D | 0.735 | deleterious | None | None | None | None | N |
| P/Y | 0.9524 | likely_pathogenic | 0.8998 | pathogenic | -0.732 | Destabilizing | 0.998 | D | 0.805 | 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.