Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31637 | 95134;95135;95136 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| N2AB | 29996 | 90211;90212;90213 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| N2A | 29069 | 87430;87431;87432 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| N2B | 22572 | 67939;67940;67941 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| Novex-1 | 22697 | 68314;68315;68316 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| Novex-2 | 22764 | 68515;68516;68517 | chr2:178546422;178546421;178546420 | chr2:179411149;179411148;179411147 |
| 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/P | rs1238019151  |
None | 1.0 | N | 0.795 | 0.46 | 0.438278051908 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs1238019151 |
None | 1.0 | N | 0.795 | 0.46 | 0.438278051908 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 0 | 0 |
| A/V | rs1384723170 |
-0.281 | 1.0 | N | 0.769 | 0.296 | 0.325263233342 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/V | rs1384723170 |
-0.281 | 1.0 | N | 0.769 | 0.296 | 0.325263233342 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| A/V | rs1384723170 |
-0.281 | 1.0 | N | 0.769 | 0.296 | 0.325263233342 | gnomAD-4.0.0 | 7.43667E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32395E-06 | 0 | 1.60118E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.786 | likely_pathogenic | 0.7967 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| A/D | 0.9967 | likely_pathogenic | 0.9959 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.842 | deleterious | N | 0.488737527 | None | None | I |
| A/E | 0.9956 | likely_pathogenic | 0.9951 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| A/F | 0.9523 | likely_pathogenic | 0.9496 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| A/G | 0.3181 | likely_benign | 0.302 | benign | -0.912 | Destabilizing | 0.244 | N | 0.42 | neutral | N | 0.507061369 | None | None | I |
| A/H | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| A/I | 0.8621 | likely_pathogenic | 0.8672 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| A/K | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| A/L | 0.7814 | likely_pathogenic | 0.7957 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| A/M | 0.8537 | likely_pathogenic | 0.8616 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| A/N | 0.9929 | likely_pathogenic | 0.992 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| A/P | 0.9968 | likely_pathogenic | 0.9962 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.488737527 | None | None | I |
| A/Q | 0.9922 | likely_pathogenic | 0.9918 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| A/R | 0.9936 | likely_pathogenic | 0.9933 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| A/S | 0.5018 | ambiguous | 0.4866 | ambiguous | -0.958 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | N | 0.476874242 | None | None | I |
| A/T | 0.5743 | likely_pathogenic | 0.5661 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.811 | deleterious | N | 0.458516498 | None | None | I |
| A/V | 0.5738 | likely_pathogenic | 0.5782 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.43840936 | None | None | I |
| A/W | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| A/Y | 0.9897 | likely_pathogenic | 0.9887 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
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.