Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32478 | 97657;97658;97659 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| N2AB | 30837 | 92734;92735;92736 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| N2A | 29910 | 89953;89954;89955 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| N2B | 23413 | 70462;70463;70464 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| Novex-1 | 23538 | 70837;70838;70839 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| Novex-2 | 23605 | 71038;71039;71040 | chr2:178542324;178542323;178542322 | chr2:179407051;179407050;179407049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | D | 0.563 | 0.658 | 0.319970858106 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/K | rs786205295  |
None | 1.0 | D | 0.701 | 0.601 | 0.234412748748 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79938E-06 | 0 | 0 |
| N/T | rs876658096 |
-0.843 | 0.999 | N | 0.657 | 0.64 | 0.381580015636 | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 2.91278E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs876658096 |
-0.843 | 0.999 | N | 0.657 | 0.64 | 0.381580015636 | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 3.14025E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs876658096 |
-0.843 | 0.999 | N | 0.657 | 0.64 | 0.381580015636 | gnomAD-4.0.0 | 2.04601E-05 | None | None | None | None | N | None | 4.1414E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.2042E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.997 | likely_pathogenic | 0.9959 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/C | 0.9547 | likely_pathogenic | 0.9433 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/D | 0.9906 | likely_pathogenic | 0.9869 | pathogenic | -2.088 | Highly Destabilizing | 0.999 | D | 0.563 | neutral | D | 0.537287663 | None | None | N |
| N/E | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.903 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/G | 0.9876 | likely_pathogenic | 0.984 | pathogenic | -1.241 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| N/H | 0.9852 | likely_pathogenic | 0.9803 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.55750874 | None | None | N |
| N/I | 0.998 | likely_pathogenic | 0.9968 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.558015719 | None | None | N |
| N/K | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.556494782 | None | None | N |
| N/L | 0.9897 | likely_pathogenic | 0.9853 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/M | 0.9971 | likely_pathogenic | 0.9957 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/P | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| N/Q | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/R | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| N/S | 0.7336 | likely_pathogenic | 0.7112 | pathogenic | -1.103 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.513903489 | None | None | N |
| N/T | 0.9642 | likely_pathogenic | 0.9597 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.500114421 | None | None | N |
| N/V | 0.9953 | likely_pathogenic | 0.9928 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/Y | 0.9974 | likely_pathogenic | 0.9959 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.55750874 | 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.