Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25281 | 76066;76067;76068 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| N2AB | 23640 | 71143;71144;71145 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| N2A | 22713 | 68362;68363;68364 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| N2B | 16216 | 48871;48872;48873 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| Novex-1 | 16341 | 49246;49247;49248 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| Novex-2 | 16408 | 49447;49448;49449 | chr2:178570291;178570290;178570289 | chr2:179435018;179435017;179435016 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs754787711  |
-2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-2.1.1 | 5.73E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.285E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs754787711 |
-2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.67118E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs754787711 |
-2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-4.0.0 | 1.54972E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.91972E-04 | None | 0 | 0 | 0 | 2.19587E-05 | 1.60195E-05 |
| A/T | rs754787711 |
-1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.10688E-04 | None | 0 | None | 0 | 7.85E-06 | 0 |
| A/T | rs754787711 |
-1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.80271E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs754787711 |
-1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-4.0.0 | 1.05381E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56537E-04 | None | 0 | 0 | 8.47742E-06 | 0 | 0 |
| A/V | rs1337558884 |
-0.695 | 0.996 | D | 0.674 | 0.596 | 0.669429980243 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1337558884 |
-0.695 | 0.996 | D | 0.674 | 0.596 | 0.669429980243 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 5.66316E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9376 | likely_pathogenic | 0.9488 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/D | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -2.918 | Highly Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| A/E | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -2.694 | Highly Destabilizing | 0.999 | D | 0.812 | deleterious | D | 0.571649063 | None | None | N |
| A/F | 0.9947 | likely_pathogenic | 0.9961 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/G | 0.1873 | likely_benign | 0.2052 | benign | -2.248 | Highly Destabilizing | 0.996 | D | 0.609 | neutral | N | 0.500686847 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/I | 0.991 | likely_pathogenic | 0.9922 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.493 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| A/L | 0.9591 | likely_pathogenic | 0.9585 | pathogenic | -0.679 | Destabilizing | 0.997 | D | 0.787 | deleterious | None | None | None | None | N |
| A/M | 0.9827 | likely_pathogenic | 0.9847 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/N | 0.9925 | likely_pathogenic | 0.9938 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/P | 0.632 | likely_pathogenic | 0.7296 | pathogenic | -1.035 | Destabilizing | 0.275 | N | 0.514 | neutral | D | 0.537504468 | None | None | N |
| A/Q | 0.9947 | likely_pathogenic | 0.996 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/R | 0.9963 | likely_pathogenic | 0.9974 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/S | 0.5235 | ambiguous | 0.5311 | ambiguous | -2.296 | Highly Destabilizing | 0.996 | D | 0.616 | neutral | N | 0.51692777 | None | None | N |
| A/T | 0.9208 | likely_pathogenic | 0.9218 | pathogenic | -1.969 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | D | 0.549742465 | None | None | N |
| A/V | 0.9425 | likely_pathogenic | 0.9452 | pathogenic | -1.035 | Destabilizing | 0.996 | D | 0.674 | neutral | D | 0.535387647 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/Y | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.882 | 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.