Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2700 | 8323;8324;8325 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| N2AB | 2700 | 8323;8324;8325 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| N2A | 2700 | 8323;8324;8325 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| N2B | 2654 | 8185;8186;8187 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| Novex-1 | 2654 | 8185;8186;8187 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| Novex-2 | 2654 | 8185;8186;8187 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
| Novex-3 | 2700 | 8323;8324;8325 | chr2:178771229;178771228;178771227 | chr2:179635956;179635955;179635954 |
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/D | rs1381263123  |
-1.328 | 1.0 | D | 0.897 | 0.466 | 0.291694819147 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| A/D | rs1381263123 |
-1.328 | 1.0 | D | 0.897 | 0.466 | 0.291694819147 | gnomAD-4.0.0 | 3.18146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.872 | likely_pathogenic | 0.8481 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/D | 0.9838 | likely_pathogenic | 0.9809 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.544136603 | None | None | N |
| A/E | 0.9839 | likely_pathogenic | 0.981 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/F | 0.9833 | likely_pathogenic | 0.9767 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| A/G | 0.1343 | likely_benign | 0.1263 | benign | -1.497 | Destabilizing | 1.0 | D | 0.503 | neutral | N | 0.35193168 | None | None | N |
| A/H | 0.9907 | likely_pathogenic | 0.9892 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/I | 0.9848 | likely_pathogenic | 0.9785 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/K | 0.9921 | likely_pathogenic | 0.9898 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/L | 0.9383 | likely_pathogenic | 0.9228 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.9628 | likely_pathogenic | 0.9502 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/N | 0.9784 | likely_pathogenic | 0.9722 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/P | 0.9933 | likely_pathogenic | 0.9921 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.487593636 | None | None | N |
| A/Q | 0.9686 | likely_pathogenic | 0.9641 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/R | 0.9679 | likely_pathogenic | 0.9622 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/S | 0.2706 | likely_benign | 0.2597 | benign | -1.72 | Destabilizing | 1.0 | D | 0.512 | neutral | N | 0.433728327 | None | None | N |
| A/T | 0.7257 | likely_pathogenic | 0.6923 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.469106013 | None | None | N |
| A/V | 0.8979 | likely_pathogenic | 0.8732 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.565 | neutral | N | 0.455796914 | None | None | N |
| A/W | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/Y | 0.9915 | likely_pathogenic | 0.9891 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.909 | 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.