Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17881 | 53866;53867;53868 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| N2AB | 16240 | 48943;48944;48945 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| N2A | 15313 | 46162;46163;46164 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| N2B | 8816 | 26671;26672;26673 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| Novex-1 | 8941 | 27046;27047;27048 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| Novex-2 | 9008 | 27247;27248;27249 | chr2:178605654;178605653;178605652 | chr2:179470381;179470380;179470379 |
| 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 | rs771801125  |
-1.583 | 0.241 | D | 0.418 | 0.375 | 0.409398589964 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| L/F | rs771801125 |
-1.583 | 0.241 | D | 0.418 | 0.375 | 0.409398589964 | gnomAD-4.0.0 | 6.85953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16553E-05 | 0 |
| L/V | rs771801125 |
-1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744837 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 1.67112E-04 |
| L/V | rs771801125 |
-1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744837 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs771801125 |
-1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744837 | gnomAD-4.0.0 | 8.07554E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01927E-05 | 0 | 1.60565E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9718 | likely_pathogenic | 0.9679 | pathogenic | -2.675 | Highly Destabilizing | 0.983 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/C | 0.9574 | likely_pathogenic | 0.9523 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.098 | Highly Destabilizing | 0.999 | D | 0.915 | deleterious | None | None | None | None | N |
| L/E | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.759 | Highly Destabilizing | 0.999 | D | 0.918 | deleterious | None | None | None | None | N |
| L/F | 0.8574 | likely_pathogenic | 0.8236 | pathogenic | -1.61 | Destabilizing | 0.241 | N | 0.418 | neutral | D | 0.526910815 | None | None | N |
| L/G | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -3.283 | Highly Destabilizing | 0.999 | D | 0.909 | deleterious | None | None | None | None | N |
| L/H | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.546789497 | None | None | N |
| L/I | 0.2123 | likely_benign | 0.1833 | benign | -0.823 | Destabilizing | 0.576 | D | 0.333 | neutral | N | 0.504056428 | None | None | N |
| L/K | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.795 | Destabilizing | 0.999 | D | 0.894 | deleterious | None | None | None | None | N |
| L/M | 0.4094 | ambiguous | 0.3457 | ambiguous | -1.031 | Destabilizing | 0.998 | D | 0.662 | neutral | None | None | None | None | N |
| L/N | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.573 | Highly Destabilizing | 0.999 | D | 0.922 | deleterious | None | None | None | None | N |
| L/P | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.435 | Destabilizing | 0.999 | D | 0.923 | deleterious | D | 0.546789497 | None | None | N |
| L/Q | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/R | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -2.107 | Highly Destabilizing | 0.999 | D | 0.905 | deleterious | D | 0.546789497 | None | None | N |
| L/S | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -3.03 | Highly Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| L/T | 0.9872 | likely_pathogenic | 0.9834 | pathogenic | -2.519 | Highly Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| L/V | 0.2969 | likely_benign | 0.2442 | benign | -1.435 | Destabilizing | 0.9 | D | 0.647 | neutral | N | 0.52121525 | None | None | N |
| L/W | 0.9936 | likely_pathogenic | 0.9923 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/Y | 0.9948 | likely_pathogenic | 0.9938 | pathogenic | -1.764 | Destabilizing | 0.99 | D | 0.769 | 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.