Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30230 | 90913;90914;90915 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| N2AB | 28589 | 85990;85991;85992 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| N2A | 27662 | 83209;83210;83211 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| N2B | 21165 | 63718;63719;63720 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| Novex-1 | 21290 | 64093;64094;64095 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| Novex-2 | 21357 | 64294;64295;64296 | chr2:178552212;178552211;178552210 | chr2:179416939;179416938;179416937 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 0.999 | N | 0.859 | 0.387 | 0.36893422563 | gnomAD-4.0.0 | 1.59224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85961E-06 | 0 | 0 |
| G/R | rs1431511352  |
None | 0.999 | N | 0.879 | 0.405 | 0.484037581386 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1431511352 |
None | 0.999 | N | 0.879 | 0.405 | 0.484037581386 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51978E-05 | None | 0 | 0 | 0 | 1.16044E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4439 | ambiguous | 0.563 | ambiguous | -0.392 | Destabilizing | 0.604 | D | 0.501 | neutral | N | 0.461100618 | None | None | N |
| G/C | 0.8299 | likely_pathogenic | 0.883 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/D | 0.8632 | likely_pathogenic | 0.8926 | pathogenic | -0.811 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| G/E | 0.85 | likely_pathogenic | 0.8922 | pathogenic | -0.95 | Destabilizing | 0.999 | D | 0.859 | deleterious | N | 0.482140935 | None | None | N |
| G/F | 0.9444 | likely_pathogenic | 0.9652 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/H | 0.9698 | likely_pathogenic | 0.9811 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/I | 0.8974 | likely_pathogenic | 0.9342 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/K | 0.9621 | likely_pathogenic | 0.9767 | pathogenic | -1.087 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| G/L | 0.9002 | likely_pathogenic | 0.9416 | pathogenic | -0.406 | Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| G/M | 0.9357 | likely_pathogenic | 0.9662 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/N | 0.9107 | likely_pathogenic | 0.936 | pathogenic | -0.704 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.8236 | likely_pathogenic | 0.8934 | pathogenic | -0.366 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9472 | likely_pathogenic | 0.965 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/R | 0.954 | likely_pathogenic | 0.9707 | pathogenic | -0.599 | Destabilizing | 0.999 | D | 0.879 | deleterious | N | 0.465215222 | None | None | N |
| G/S | 0.5476 | ambiguous | 0.6392 | pathogenic | -0.851 | Destabilizing | 0.998 | D | 0.803 | deleterious | None | None | None | None | N |
| G/T | 0.8324 | likely_pathogenic | 0.8887 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| G/V | 0.8439 | likely_pathogenic | 0.8957 | pathogenic | -0.366 | Destabilizing | 0.997 | D | 0.846 | deleterious | N | 0.497602298 | None | None | N |
| G/W | 0.9347 | likely_pathogenic | 0.9521 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/Y | 0.9108 | likely_pathogenic | 0.9428 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.861 | 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.