Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21736 | 65431;65432;65433 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| N2AB | 20095 | 60508;60509;60510 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| N2A | 19168 | 57727;57728;57729 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| N2B | 12671 | 38236;38237;38238 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| Novex-1 | 12796 | 38611;38612;38613 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| Novex-2 | 12863 | 38812;38813;38814 | chr2:178584345;178584344;178584343 | chr2:179449072;179449071;179449070 |
| 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/S | rs1320436212  |
-1.891 | 1.0 | D | 0.597 | 0.63 | 0.599966047421 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1320436212 |
-1.891 | 1.0 | D | 0.597 | 0.63 | 0.599966047421 | gnomAD-4.0.0 | 1.59544E-06 | None | None | None | None | N | None | 0 | 2.28875E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7924 | likely_pathogenic | 0.8122 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.641524072 | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -2.654 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/F | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/G | 0.5174 | ambiguous | 0.5278 | ambiguous | -2.416 | Highly Destabilizing | 1.0 | D | 0.61 | neutral | D | 0.607638752 | None | None | N |
| A/H | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/I | 0.981 | likely_pathogenic | 0.9778 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9379 | likely_pathogenic | 0.9333 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/M | 0.9784 | likely_pathogenic | 0.9788 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/N | 0.994 | likely_pathogenic | 0.9936 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/P | 0.9891 | likely_pathogenic | 0.9884 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.64091866 | None | None | N |
| A/Q | 0.9931 | likely_pathogenic | 0.9915 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/R | 0.9955 | likely_pathogenic | 0.9941 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/S | 0.3514 | ambiguous | 0.3745 | ambiguous | -2.331 | Highly Destabilizing | 1.0 | D | 0.597 | neutral | D | 0.581495227 | None | None | N |
| A/T | 0.7876 | likely_pathogenic | 0.7857 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.608244165 | None | None | N |
| A/V | 0.8664 | likely_pathogenic | 0.8516 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.614371527 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/Y | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.903 | 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.