Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27051 | 81376;81377;81378 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| N2AB | 25410 | 76453;76454;76455 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| N2A | 24483 | 73672;73673;73674 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| N2B | 17986 | 54181;54182;54183 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| Novex-1 | 18111 | 54556;54557;54558 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| Novex-2 | 18178 | 54757;54758;54759 | chr2:178564981;178564980;178564979 | chr2:179429708;179429707;179429706 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 1.0 | D | 0.745 | 0.643 | 0.374434639691 | gnomAD-4.0.0 | 6.8512E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16501E-05 | 0 |
| N/S | rs1235989659  |
None | 0.999 | N | 0.583 | 0.714 | 0.348983352498 | 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 |
| N/S | rs1235989659 |
None | 0.999 | N | 0.583 | 0.714 | 0.348983352498 | gnomAD-4.0.0 | 1.86095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54428E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/C | 0.9836 | likely_pathogenic | 0.9711 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/D | 0.9914 | likely_pathogenic | 0.9886 | pathogenic | -2.175 | Highly Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.537338387 | None | None | N |
| N/E | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.999 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| N/G | 0.9927 | likely_pathogenic | 0.9896 | pathogenic | -1.188 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| N/H | 0.9916 | likely_pathogenic | 0.9888 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.561990008 | None | None | N |
| N/I | 0.9975 | likely_pathogenic | 0.9966 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.562243498 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.549455161 | None | None | N |
| N/L | 0.9929 | likely_pathogenic | 0.9908 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/M | 0.996 | likely_pathogenic | 0.994 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| N/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/R | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/S | 0.9491 | likely_pathogenic | 0.9089 | pathogenic | -1.115 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.519701431 | None | None | N |
| N/T | 0.9856 | likely_pathogenic | 0.9761 | pathogenic | -0.779 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.512064427 | None | None | N |
| N/V | 0.9969 | likely_pathogenic | 0.9957 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/Y | 0.9946 | likely_pathogenic | 0.994 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.550469119 | 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.