Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22914 | 68965;68966;68967 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| N2AB | 21273 | 64042;64043;64044 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| N2A | 20346 | 61261;61262;61263 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| N2B | 13849 | 41770;41771;41772 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| Novex-1 | 13974 | 42145;42146;42147 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| Novex-2 | 14041 | 42346;42347;42348 | chr2:178577686;178577685;178577684 | chr2:179442413;179442412;179442411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.681 | 0.577 | 0.530754069387 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -2.892 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| F/C | 0.9831 | likely_pathogenic | 0.9858 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.559152398 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.881 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.637 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/G | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -3.353 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/H | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/I | 0.9291 | likely_pathogenic | 0.944 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.514898356 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/L | 0.9919 | likely_pathogenic | 0.9943 | pathogenic | -1.356 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.518634566 | None | None | N |
| F/M | 0.9685 | likely_pathogenic | 0.9741 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/N | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/S | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -3.747 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.570508703 | None | None | N |
| F/T | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -3.379 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.9485 | likely_pathogenic | 0.961 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.510273093 | None | None | N |
| F/W | 0.9371 | likely_pathogenic | 0.9388 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/Y | 0.5657 | likely_pathogenic | 0.5919 | pathogenic | -1.142 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.5169035 | 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.