Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35352 | 106279;106280;106281 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| N2AB | 33711 | 101356;101357;101358 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| N2A | 32784 | 98575;98576;98577 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| N2B | 26287 | 79084;79085;79086 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| Novex-1 | 26412 | 79459;79460;79461 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| Novex-2 | 26479 | 79660;79661;79662 | chr2:178530561;178530560;178530559 | chr2:179395288;179395287;179395286 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs746512551  |
0.093 | 0.928 | N | 0.254 | 0.242 | None | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs746512551 |
0.093 | 0.928 | N | 0.254 | 0.242 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs746512551 |
0.093 | 0.928 | N | 0.254 | 0.242 | None | gnomAD-4.0.0 | 3.8424E-06 | None | None | None | None | N | None | 5.07271E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs370094513 |
None | 0.773 | N | 0.299 | 0.219 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs370094513 |
None | 0.773 | N | 0.299 | 0.219 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/P | rs370094513 |
None | 0.773 | N | 0.299 | 0.219 | None | gnomAD-4.0.0 | 5.12317E-06 | None | None | None | None | N | None | 5.07271E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39245E-06 | 0 | 0 |
| S/Y | rs746512551 |
-0.636 | 0.912 | N | 0.283 | 0.182 | 0.331365685468 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| S/Y | rs746512551 |
-0.636 | 0.912 | N | 0.283 | 0.182 | 0.331365685468 | gnomAD-4.0.0 | 4.77271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.073 | likely_benign | 0.0701 | benign | -0.201 | Destabilizing | 0.001 | N | 0.076 | neutral | N | 0.447348556 | None | None | N |
| S/C | 0.1731 | likely_benign | 0.1697 | benign | -0.093 | Destabilizing | 0.928 | D | 0.254 | neutral | N | 0.484799236 | None | None | N |
| S/D | 0.244 | likely_benign | 0.2227 | benign | -0.161 | Destabilizing | 0.002 | N | 0.165 | neutral | None | None | None | None | N |
| S/E | 0.3467 | ambiguous | 0.3188 | benign | -0.274 | Destabilizing | 0.241 | N | 0.186 | neutral | None | None | None | None | N |
| S/F | 0.209 | likely_benign | 0.1999 | benign | -0.902 | Destabilizing | 0.773 | D | 0.291 | neutral | N | 0.448337237 | None | None | N |
| S/G | 0.1094 | likely_benign | 0.1076 | benign | -0.27 | Destabilizing | 0.001 | N | 0.079 | neutral | None | None | None | None | N |
| S/H | 0.3457 | ambiguous | 0.338 | benign | -0.727 | Destabilizing | 0.932 | D | 0.255 | neutral | None | None | None | None | N |
| S/I | 0.1754 | likely_benign | 0.1818 | benign | -0.152 | Destabilizing | 0.69 | D | 0.323 | neutral | None | None | None | None | N |
| S/K | 0.4641 | ambiguous | 0.4429 | ambiguous | -0.387 | Destabilizing | 0.388 | N | 0.203 | neutral | None | None | None | None | N |
| S/L | 0.111 | likely_benign | 0.1083 | benign | -0.152 | Destabilizing | 0.241 | N | 0.308 | neutral | None | None | None | None | N |
| S/M | 0.1986 | likely_benign | 0.1961 | benign | 0.136 | Stabilizing | 0.944 | D | 0.255 | neutral | None | None | None | None | N |
| S/N | 0.1164 | likely_benign | 0.1156 | benign | -0.05 | Destabilizing | 0.388 | N | 0.227 | neutral | None | None | None | None | N |
| S/P | 0.3731 | ambiguous | 0.3688 | ambiguous | -0.143 | Destabilizing | 0.773 | D | 0.299 | neutral | N | 0.457794211 | None | None | N |
| S/Q | 0.4238 | ambiguous | 0.4015 | ambiguous | -0.352 | Destabilizing | 0.818 | D | 0.271 | neutral | None | None | None | None | N |
| S/R | 0.4225 | ambiguous | 0.4164 | ambiguous | -0.099 | Destabilizing | 0.69 | D | 0.291 | neutral | None | None | None | None | N |
| S/T | 0.0815 | likely_benign | 0.0788 | benign | -0.148 | Destabilizing | 0.006 | N | 0.121 | neutral | N | 0.490253972 | None | None | N |
| S/V | 0.1985 | likely_benign | 0.1954 | benign | -0.143 | Destabilizing | 0.241 | N | 0.305 | neutral | None | None | None | None | N |
| S/W | 0.3447 | ambiguous | 0.3348 | benign | -0.959 | Destabilizing | 0.981 | D | 0.353 | neutral | None | None | None | None | N |
| S/Y | 0.1977 | likely_benign | 0.1939 | benign | -0.661 | Destabilizing | 0.912 | D | 0.283 | neutral | N | 0.443564297 | 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.