Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16412 | 49459;49460;49461 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| N2AB | 14771 | 44536;44537;44538 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| N2A | 13844 | 41755;41756;41757 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| N2B | 7347 | 22264;22265;22266 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| Novex-1 | 7472 | 22639;22640;22641 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| Novex-2 | 7539 | 22840;22841;22842 | chr2:178614163;178614162;178614161 | chr2:179478890;179478889;179478888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs746659077  |
-1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 5.98683E-04 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/G | rs746659077 |
-1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 1.15473E-03 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs746659077 |
-1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-4.0.0 | 1.11642E-05 | None | None | None | None | N | None | 0 | 0 | None | 4.73485E-04 | 0 | None | 0 | 0 | 3.3921E-06 | 0 | 0 |
| A/V | rs746659077 |
0.664 | 0.235 | N | 0.391 | 0.189 | 0.239901079897 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/V | rs746659077 |
0.664 | 0.235 | N | 0.391 | 0.189 | 0.239901079897 | gnomAD-4.0.0 | 1.02705E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34974E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6758 | likely_pathogenic | 0.6597 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/D | 0.98 | likely_pathogenic | 0.972 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.803 | deleterious | N | 0.477809366 | None | None | N |
| A/E | 0.9609 | likely_pathogenic | 0.9444 | pathogenic | -0.975 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| A/F | 0.8767 | likely_pathogenic | 0.8555 | pathogenic | -0.454 | Destabilizing | 0.995 | D | 0.832 | deleterious | None | None | None | None | N |
| A/G | 0.4363 | ambiguous | 0.4191 | ambiguous | -1.163 | Destabilizing | 0.989 | D | 0.64 | neutral | D | 0.590602946 | None | None | N |
| A/H | 0.9862 | likely_pathogenic | 0.9797 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/I | 0.4188 | ambiguous | 0.4223 | ambiguous | 0.607 | Stabilizing | 0.966 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/K | 0.9917 | likely_pathogenic | 0.9884 | pathogenic | -0.748 | Destabilizing | 0.998 | D | 0.774 | deleterious | None | None | None | None | N |
| A/L | 0.5619 | ambiguous | 0.5641 | pathogenic | 0.607 | Stabilizing | 0.966 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/M | 0.6453 | likely_pathogenic | 0.623 | pathogenic | 0.299 | Stabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9503 | likely_pathogenic | 0.9348 | pathogenic | -0.967 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| A/P | 0.9184 | likely_pathogenic | 0.9209 | pathogenic | 0.226 | Stabilizing | 0.999 | D | 0.786 | deleterious | D | 0.536685727 | None | None | N |
| A/Q | 0.9631 | likely_pathogenic | 0.9502 | pathogenic | -0.73 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| A/R | 0.9862 | likely_pathogenic | 0.9813 | pathogenic | -0.991 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| A/S | 0.3462 | ambiguous | 0.3162 | benign | -1.49 | Destabilizing | 0.989 | D | 0.626 | neutral | N | 0.470492385 | None | None | N |
| A/T | 0.3121 | likely_benign | 0.3028 | benign | -1.133 | Destabilizing | 0.977 | D | 0.674 | neutral | N | 0.466737417 | None | None | N |
| A/V | 0.1586 | likely_benign | 0.1656 | benign | 0.226 | Stabilizing | 0.235 | N | 0.391 | neutral | N | 0.36170962 | None | None | N |
| A/W | 0.9925 | likely_pathogenic | 0.9897 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/Y | 0.9583 | likely_pathogenic | 0.9431 | pathogenic | -0.493 | Destabilizing | 0.998 | D | 0.86 | 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.