Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22968 | 69127;69128;69129 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| N2AB | 21327 | 64204;64205;64206 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| N2A | 20400 | 61423;61424;61425 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| N2B | 13903 | 41932;41933;41934 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| Novex-1 | 14028 | 42307;42308;42309 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| Novex-2 | 14095 | 42508;42509;42510 | chr2:178577433;178577432;178577431 | chr2:179442160;179442159;179442158 |
| 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/D | None | None | 1.0 | N | 0.868 | 0.674 | 0.646332412001 | gnomAD-4.0.0 | 1.37144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80159E-06 | 0 | 0 |
| A/V | rs1331232420  |
0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14969E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1331232420 |
0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1331232420 |
0.307 | 1.0 | N | 0.777 | 0.404 | 0.423954403188 | gnomAD-4.0.0 | 1.24213E-06 | None | None | None | None | N | None | 1.33733E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48842E-07 | 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 | 0.6847 | likely_pathogenic | 0.6958 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.9858 | likely_pathogenic | 0.9875 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.497954238 | None | None | N |
| A/E | 0.9855 | likely_pathogenic | 0.9873 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/F | 0.9311 | likely_pathogenic | 0.9381 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/G | 0.2882 | likely_benign | 0.2833 | benign | -0.931 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.461492239 | None | None | N |
| A/H | 0.9882 | likely_pathogenic | 0.9889 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/I | 0.7481 | likely_pathogenic | 0.7441 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/K | 0.9934 | likely_pathogenic | 0.9936 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/L | 0.7139 | likely_pathogenic | 0.7299 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/M | 0.8071 | likely_pathogenic | 0.8197 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/N | 0.9608 | likely_pathogenic | 0.9642 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/P | 0.9486 | likely_pathogenic | 0.9494 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.479849983 | None | None | N |
| A/Q | 0.9763 | likely_pathogenic | 0.9784 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/R | 0.9828 | likely_pathogenic | 0.984 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/S | 0.2848 | likely_benign | 0.2919 | benign | -0.918 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.479343004 | None | None | N |
| A/T | 0.3851 | ambiguous | 0.384 | ambiguous | -0.826 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.465099863 | None | None | N |
| A/V | 0.4176 | ambiguous | 0.4186 | ambiguous | -0.292 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.460537052 | None | None | N |
| A/W | 0.9955 | likely_pathogenic | 0.9963 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/Y | 0.9777 | likely_pathogenic | 0.9804 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.902 | 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.