Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30898 | 92917;92918;92919 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| N2AB | 29257 | 87994;87995;87996 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| N2A | 28330 | 85213;85214;85215 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| N2B | 21833 | 65722;65723;65724 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| Novex-1 | 21958 | 66097;66098;66099 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| Novex-2 | 22025 | 66298;66299;66300 | chr2:178548934;178548933;178548932 | chr2:179413661;179413660;179413659 |
| 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 | None | None | 1.0 | D | 0.793 | 0.8 | 0.609592032954 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8408 | likely_pathogenic | 0.8596 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -3.072 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.582640202 | None | None | N |
| A/E | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/F | 0.9901 | likely_pathogenic | 0.9915 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/G | 0.3975 | ambiguous | 0.4257 | ambiguous | -2.089 | Highly Destabilizing | 1.0 | D | 0.642 | neutral | D | 0.546378785 | None | None | N |
| A/H | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/I | 0.967 | likely_pathogenic | 0.9676 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/L | 0.9326 | likely_pathogenic | 0.93 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.9597 | likely_pathogenic | 0.9596 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/N | 0.9873 | likely_pathogenic | 0.9873 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9243 | likely_pathogenic | 0.9377 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.570776917 | None | None | N |
| A/Q | 0.9901 | likely_pathogenic | 0.9902 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/R | 0.9948 | likely_pathogenic | 0.9947 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/S | 0.2553 | likely_benign | 0.2729 | benign | -2.352 | Highly Destabilizing | 1.0 | D | 0.631 | neutral | D | 0.522741122 | None | None | N |
| A/T | 0.7333 | likely_pathogenic | 0.7322 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.563268499 | None | None | N |
| A/V | 0.8205 | likely_pathogenic | 0.8234 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.563015009 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.871 | 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.