Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30886 | 92881;92882;92883 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| N2AB | 29245 | 87958;87959;87960 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| N2A | 28318 | 85177;85178;85179 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| N2B | 21821 | 65686;65687;65688 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| Novex-1 | 21946 | 66061;66062;66063 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| Novex-2 | 22013 | 66262;66263;66264 | chr2:178548970;178548969;178548968 | chr2:179413697;179413696;179413695 |
| 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/P | rs1462587732  |
None | 1.0 | D | 0.847 | 0.803 | 0.911694052022 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs1462587732 |
None | 1.0 | D | 0.847 | 0.803 | 0.911694052022 | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs1234175458 |
-1.82 | 0.999 | D | 0.821 | 0.571 | 0.770846950443 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| L/V | rs1234175458 |
-1.82 | 0.999 | D | 0.821 | 0.571 | 0.770846950443 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs1234175458 |
-1.82 | 0.999 | D | 0.821 | 0.571 | 0.770846950443 | gnomAD-4.0.0 | 2.56196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78544E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9597 | likely_pathogenic | 0.9626 | pathogenic | -2.441 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| L/C | 0.9193 | likely_pathogenic | 0.9266 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/E | 0.9963 | likely_pathogenic | 0.9967 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/F | 0.8717 | likely_pathogenic | 0.8607 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/G | 0.9931 | likely_pathogenic | 0.9941 | pathogenic | -2.908 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/H | 0.9925 | likely_pathogenic | 0.9926 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| L/I | 0.21 | likely_benign | 0.2043 | benign | -1.146 | Destabilizing | 0.999 | D | 0.817 | deleterious | D | 0.640750755 | None | None | N |
| L/K | 0.9903 | likely_pathogenic | 0.9907 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/M | 0.4571 | ambiguous | 0.433 | ambiguous | -1.033 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/N | 0.9955 | likely_pathogenic | 0.9957 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/P | 0.9939 | likely_pathogenic | 0.9933 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.684124466 | None | None | N |
| L/Q | 0.9843 | likely_pathogenic | 0.9844 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.642566994 | None | None | N |
| L/R | 0.98 | likely_pathogenic | 0.9817 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.658586355 | None | None | N |
| L/S | 0.9937 | likely_pathogenic | 0.9943 | pathogenic | -2.618 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| L/T | 0.9493 | likely_pathogenic | 0.9542 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| L/V | 0.2606 | likely_benign | 0.2723 | benign | -1.552 | Destabilizing | 0.999 | D | 0.821 | deleterious | D | 0.605804616 | None | None | N |
| L/W | 0.9883 | likely_pathogenic | 0.9889 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| L/Y | 0.9905 | likely_pathogenic | 0.9905 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.834 | 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.