Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9358 | 28297;28298;28299 | chr2:178711164;178711163;178711162 | chr2:179575891;179575890;179575889 |
| N2AB | 9041 | 27346;27347;27348 | chr2:178711164;178711163;178711162 | chr2:179575891;179575890;179575889 |
| N2A | 8114 | 24565;24566;24567 | chr2:178711164;178711163;178711162 | chr2:179575891;179575890;179575889 |
| 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 | rs1266271972  |
-1.461 | 1.0 | None | 0.822 | 0.624 | 0.750213111841 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1266271972 |
-1.461 | 1.0 | None | 0.822 | 0.624 | 0.750213111841 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77239E-05 | 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 | 0.8796 | likely_pathogenic | 0.8718 | pathogenic | -2.347 | Highly Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| L/C | 0.8981 | likely_pathogenic | 0.8517 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| L/E | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | -2.786 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| L/F | 0.5515 | ambiguous | 0.4664 | ambiguous | -1.432 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| L/G | 0.9837 | likely_pathogenic | 0.9807 | pathogenic | -2.966 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| L/H | 0.9855 | likely_pathogenic | 0.9857 | pathogenic | -2.942 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| L/I | 0.154 | likely_benign | 0.1658 | benign | -0.479 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| L/K | 0.9898 | likely_pathogenic | 0.9911 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/M | 0.2468 | likely_benign | 0.225 | benign | -0.817 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| L/N | 0.9949 | likely_pathogenic | 0.995 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| L/P | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/Q | 0.9679 | likely_pathogenic | 0.9714 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/R | 0.9761 | likely_pathogenic | 0.9777 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/S | 0.986 | likely_pathogenic | 0.9851 | pathogenic | -2.99 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/T | 0.9474 | likely_pathogenic | 0.9455 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| L/V | 0.186 | likely_benign | 0.1973 | benign | -1.094 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| L/W | 0.9431 | likely_pathogenic | 0.9377 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/Y | 0.9575 | likely_pathogenic | 0.9483 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.865 | 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.