Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34275 | 103048;103049;103050 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| N2AB | 32634 | 98125;98126;98127 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| N2A | 31707 | 95344;95345;95346 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| N2B | 25210 | 75853;75854;75855 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| Novex-1 | 25335 | 76228;76229;76230 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| Novex-2 | 25402 | 76429;76430;76431 | chr2:178533792;178533791;178533790 | chr2:179398519;179398518;179398517 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs879063086  |
-0.637 | 0.046 | N | 0.275 | 0.102 | 0.300449992093 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 1.93773E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65289E-04 |
| V/I | rs879063086 |
-0.637 | 0.046 | N | 0.275 | 0.102 | 0.300449992093 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs879063086 |
-0.637 | 0.046 | N | 0.275 | 0.102 | 0.300449992093 | gnomAD-4.0.0 | 4.33746E-06 | None | None | None | None | N | None | 8.00833E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5255 | ambiguous | 0.6495 | pathogenic | -1.821 | Destabilizing | 0.939 | D | 0.565 | neutral | N | 0.40873424 | None | None | N |
| V/C | 0.8783 | likely_pathogenic | 0.9286 | pathogenic | -1.457 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| V/D | 0.9745 | likely_pathogenic | 0.9904 | pathogenic | -1.546 | Destabilizing | 0.997 | D | 0.78 | deleterious | N | 0.483107851 | None | None | N |
| V/E | 0.9129 | likely_pathogenic | 0.9651 | pathogenic | -1.411 | Destabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | N |
| V/F | 0.6026 | likely_pathogenic | 0.811 | pathogenic | -1.151 | Destabilizing | 0.982 | D | 0.767 | deleterious | N | 0.446872887 | None | None | N |
| V/G | 0.8215 | likely_pathogenic | 0.9018 | pathogenic | -2.293 | Highly Destabilizing | 0.997 | D | 0.795 | deleterious | N | 0.457748667 | None | None | N |
| V/H | 0.9737 | likely_pathogenic | 0.992 | pathogenic | -1.812 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| V/I | 0.0844 | likely_benign | 0.1003 | benign | -0.561 | Destabilizing | 0.046 | N | 0.275 | neutral | N | 0.458741773 | None | None | N |
| V/K | 0.9403 | likely_pathogenic | 0.9766 | pathogenic | -1.492 | Destabilizing | 0.993 | D | 0.759 | deleterious | None | None | None | None | N |
| V/L | 0.3997 | ambiguous | 0.5761 | pathogenic | -0.561 | Destabilizing | 0.046 | N | 0.301 | neutral | N | 0.454218601 | None | None | N |
| V/M | 0.3602 | ambiguous | 0.5383 | ambiguous | -0.571 | Destabilizing | 0.986 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/N | 0.9288 | likely_pathogenic | 0.9726 | pathogenic | -1.544 | Destabilizing | 0.998 | D | 0.791 | deleterious | None | None | None | None | N |
| V/P | 0.9914 | likely_pathogenic | 0.9949 | pathogenic | -0.948 | Destabilizing | 0.998 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9134 | likely_pathogenic | 0.9644 | pathogenic | -1.493 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| V/R | 0.9205 | likely_pathogenic | 0.9682 | pathogenic | -1.201 | Destabilizing | 0.993 | D | 0.791 | deleterious | None | None | None | None | N |
| V/S | 0.8013 | likely_pathogenic | 0.9 | pathogenic | -2.248 | Highly Destabilizing | 0.993 | D | 0.751 | deleterious | None | None | None | None | N |
| V/T | 0.5392 | ambiguous | 0.6555 | pathogenic | -1.96 | Destabilizing | 0.953 | D | 0.639 | neutral | None | None | None | None | N |
| V/W | 0.9863 | likely_pathogenic | 0.9963 | pathogenic | -1.448 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| V/Y | 0.9424 | likely_pathogenic | 0.98 | pathogenic | -1.11 | Destabilizing | 0.993 | D | 0.733 | prob.delet. | 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.