Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28329 | 85210;85211;85212 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| N2AB | 26688 | 80287;80288;80289 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| N2A | 25761 | 77506;77507;77508 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| N2B | 19264 | 58015;58016;58017 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| Novex-1 | 19389 | 58390;58391;58392 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| Novex-2 | 19456 | 58591;58592;58593 | chr2:178561147;178561146;178561145 | chr2:179425874;179425873;179425872 |
| 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/E | rs1208499717  |
None | 0.999 | D | 0.843 | 0.699 | 0.823067485406 | gnomAD-4.0.0 | 3.18282E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54908E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.992 | D | 0.605 | 0.54 | 0.472982741448 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1330177891 |
-1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/T | rs1330177891 |
-1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | 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 |
| A/T | rs1330177891 |
-1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 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 | 0.8112 | likely_pathogenic | 0.8213 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -3.025 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/E | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -2.798 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | D | 0.580207438 | None | None | N |
| A/F | 0.9916 | likely_pathogenic | 0.9895 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/G | 0.5752 | likely_pathogenic | 0.5281 | ambiguous | -2.164 | Highly Destabilizing | 0.998 | D | 0.619 | neutral | D | 0.529818239 | None | None | N |
| A/H | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/I | 0.9711 | likely_pathogenic | 0.9673 | pathogenic | -0.438 | Destabilizing | 0.999 | D | 0.862 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/L | 0.9064 | likely_pathogenic | 0.8921 | pathogenic | -0.438 | Destabilizing | 0.997 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.9723 | likely_pathogenic | 0.965 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/N | 0.9954 | likely_pathogenic | 0.9942 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/P | 0.991 | likely_pathogenic | 0.9879 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.551000367 | None | None | N |
| A/Q | 0.9899 | likely_pathogenic | 0.9886 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/R | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/S | 0.3099 | likely_benign | 0.3163 | benign | -2.386 | Highly Destabilizing | 0.992 | D | 0.605 | neutral | D | 0.528777828 | None | None | N |
| A/T | 0.7313 | likely_pathogenic | 0.6941 | pathogenic | -2.043 | Highly Destabilizing | 0.884 | D | 0.393 | neutral | D | 0.546944535 | None | None | N |
| A/V | 0.8452 | likely_pathogenic | 0.8289 | pathogenic | -0.824 | Destabilizing | 0.996 | D | 0.645 | neutral | D | 0.548718962 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/Y | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.919 | 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.