Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7380 | 22363;22364;22365 | chr2:178722761;178722760;178722759 | chr2:179587488;179587487;179587486 |
| N2AB | 7063 | 21412;21413;21414 | chr2:178722761;178722760;178722759 | chr2:179587488;179587487;179587486 |
| N2A | 6136 | 18631;18632;18633 | chr2:178722761;178722760;178722759 | chr2:179587488;179587487;179587486 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1322468244  |
None | 1.0 | D | 0.713 | 0.564 | 0.780422376419 | gnomAD-4.0.0 | 2.73776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59859E-06 | 0 | 0 |
| L/I | rs1322468244 |
0.069 | 0.979 | N | 0.635 | 0.446 | 0.706338937978 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/R | rs1273455014 |
None | 1.0 | D | 0.87 | 0.859 | 0.821671387332 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs1273455014 |
None | 1.0 | D | 0.87 | 0.859 | 0.821671387332 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 2.41185E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8171 | likely_pathogenic | 0.9252 | pathogenic | -1.941 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/C | 0.8921 | likely_pathogenic | 0.9511 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| L/D | 0.9992 | likely_pathogenic | 0.9998 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/E | 0.9935 | likely_pathogenic | 0.9979 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| L/F | 0.5157 | ambiguous | 0.7301 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.526142298 | None | None | N |
| L/G | 0.9814 | likely_pathogenic | 0.9942 | pathogenic | -2.547 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/H | 0.9774 | likely_pathogenic | 0.9925 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.562403715 | None | None | N |
| L/I | 0.1518 | likely_benign | 0.22 | benign | -0.128 | Destabilizing | 0.979 | D | 0.635 | neutral | N | 0.516569965 | None | None | N |
| L/K | 0.9906 | likely_pathogenic | 0.9962 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/M | 0.2355 | likely_benign | 0.344 | ambiguous | -0.357 | Destabilizing | 0.976 | D | 0.569 | neutral | None | None | None | None | N |
| L/N | 0.9934 | likely_pathogenic | 0.9978 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/P | 0.9961 | likely_pathogenic | 0.9989 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.57376002 | None | None | N |
| L/Q | 0.9669 | likely_pathogenic | 0.9897 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| L/R | 0.9716 | likely_pathogenic | 0.9897 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.57376002 | None | None | N |
| L/S | 0.9777 | likely_pathogenic | 0.9939 | pathogenic | -2.502 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/T | 0.9152 | likely_pathogenic | 0.9714 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| L/V | 0.1605 | likely_benign | 0.2575 | benign | -0.721 | Destabilizing | 0.62 | D | 0.431 | neutral | N | 0.514051978 | None | None | N |
| L/W | 0.9245 | likely_pathogenic | 0.9777 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/Y | 0.9439 | likely_pathogenic | 0.9802 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.781 | 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.