Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32475 | 97648;97649;97650 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| N2AB | 30834 | 92725;92726;92727 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| N2A | 29907 | 89944;89945;89946 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| N2B | 23410 | 70453;70454;70455 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| Novex-1 | 23535 | 70828;70829;70830 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| Novex-2 | 23602 | 71029;71030;71031 | chr2:178542333;178542332;178542331 | chr2:179407060;179407059;179407058 |
| 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/T | rs1347342208  |
None | 1.0 | N | 0.742 | 0.351 | 0.322510055762 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1347342208 |
None | 1.0 | N | 0.742 | 0.351 | 0.322510055762 | gnomAD-4.0.0 | 3.0451E-06 | None | None | None | None | N | None | 1.74837E-05 | 0 | None | 0 | 1.13585E-04 | None | 0 | 0 | 1.20494E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6567 | likely_pathogenic | 0.6365 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/D | 0.994 | likely_pathogenic | 0.9916 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.499147505 | None | None | N |
| A/E | 0.9811 | likely_pathogenic | 0.9728 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/F | 0.9355 | likely_pathogenic | 0.8987 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/G | 0.3043 | likely_benign | 0.2812 | benign | -1.888 | Destabilizing | 1.0 | D | 0.585 | neutral | N | 0.473156438 | None | None | N |
| A/H | 0.9664 | likely_pathogenic | 0.9609 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/I | 0.9552 | likely_pathogenic | 0.9125 | pathogenic | 0.214 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/K | 0.9841 | likely_pathogenic | 0.9797 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/L | 0.8723 | likely_pathogenic | 0.8104 | pathogenic | 0.214 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/M | 0.8508 | likely_pathogenic | 0.7563 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/N | 0.9667 | likely_pathogenic | 0.9543 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/P | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.499907973 | None | None | N |
| A/Q | 0.9113 | likely_pathogenic | 0.8906 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/R | 0.9432 | likely_pathogenic | 0.9343 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/S | 0.2325 | likely_benign | 0.2136 | benign | -1.779 | Destabilizing | 1.0 | D | 0.585 | neutral | N | 0.424744708 | None | None | N |
| A/T | 0.6828 | likely_pathogenic | 0.5312 | ambiguous | -1.327 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.477210969 | None | None | N |
| A/V | 0.8037 | likely_pathogenic | 0.6885 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.45789449 | None | None | N |
| A/W | 0.9899 | likely_pathogenic | 0.9854 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/Y | 0.9644 | likely_pathogenic | 0.951 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.852 | 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.