Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32851 | 98776;98777;98778 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| N2AB | 31210 | 93853;93854;93855 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| N2A | 30283 | 91072;91073;91074 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| N2B | 23786 | 71581;71582;71583 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| Novex-1 | 23911 | 71956;71957;71958 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| Novex-2 | 23978 | 72157;72158;72159 | chr2:178539514;178539513;178539512 | chr2:179404241;179404240;179404239 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs775915301  |
-0.051 | 0.91 | N | 0.251 | 0.193 | 0.146414634003 | gnomAD-2.1.1 | 5.71E-05 | None | None | None | None | N | None | 4.13E-05 | 3.39309E-04 | None | 0 | 1.02407E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/Q | rs775915301 |
-0.051 | 0.91 | N | 0.251 | 0.193 | 0.146414634003 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs775915301 |
-0.051 | 0.91 | N | 0.251 | 0.193 | 0.146414634003 | gnomAD-4.0.0 | 2.29295E-05 | None | None | None | None | N | None | 1.33568E-05 | 3.0011E-04 | None | 0 | 4.45692E-05 | None | 0 | 0 | 1.18666E-05 | 1.09789E-05 | 1.60108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2576 | likely_benign | 0.2234 | benign | -0.017 | Destabilizing | 0.3 | N | 0.173 | neutral | None | None | None | None | N |
| R/C | 0.211 | likely_benign | 0.1916 | benign | -0.282 | Destabilizing | 0.981 | D | 0.261 | neutral | None | None | None | None | N |
| R/D | 0.5426 | ambiguous | 0.4914 | ambiguous | -0.223 | Destabilizing | 0.704 | D | 0.306 | neutral | None | None | None | None | N |
| R/E | 0.2818 | likely_benign | 0.2532 | benign | -0.186 | Destabilizing | 0.329 | N | 0.169 | neutral | None | None | None | None | N |
| R/F | 0.4743 | ambiguous | 0.4445 | ambiguous | -0.339 | Destabilizing | 0.944 | D | 0.333 | neutral | None | None | None | None | N |
| R/G | 0.1971 | likely_benign | 0.1678 | benign | -0.152 | Destabilizing | 0.653 | D | 0.239 | neutral | N | 0.468514128 | None | None | N |
| R/H | 0.1217 | likely_benign | 0.1134 | benign | -0.563 | Destabilizing | 0.981 | D | 0.324 | neutral | None | None | None | None | N |
| R/I | 0.2215 | likely_benign | 0.1938 | benign | 0.293 | Stabilizing | 0.329 | N | 0.3 | neutral | None | None | None | None | N |
| R/K | 0.0915 | likely_benign | 0.0777 | benign | -0.172 | Destabilizing | 0.001 | N | 0.095 | neutral | None | None | None | None | N |
| R/L | 0.1971 | likely_benign | 0.1759 | benign | 0.293 | Stabilizing | 0.485 | N | 0.237 | neutral | N | 0.487929395 | None | None | N |
| R/M | 0.2195 | likely_benign | 0.1897 | benign | -0.088 | Destabilizing | 0.944 | D | 0.319 | neutral | None | None | None | None | N |
| R/N | 0.4171 | ambiguous | 0.3738 | ambiguous | -0.052 | Destabilizing | 0.704 | D | 0.196 | neutral | None | None | None | None | N |
| R/P | 0.3237 | likely_benign | 0.3036 | benign | 0.208 | Stabilizing | 0.902 | D | 0.36 | neutral | N | 0.424205991 | None | None | N |
| R/Q | 0.1031 | likely_benign | 0.0961 | benign | -0.12 | Destabilizing | 0.91 | D | 0.251 | neutral | N | 0.46043615 | None | None | N |
| R/S | 0.3259 | likely_benign | 0.2841 | benign | -0.293 | Destabilizing | 0.329 | N | 0.23 | neutral | None | None | None | None | N |
| R/T | 0.1549 | likely_benign | 0.1345 | benign | -0.151 | Destabilizing | 0.004 | N | 0.121 | neutral | None | None | None | None | N |
| R/V | 0.2675 | likely_benign | 0.2367 | benign | 0.208 | Stabilizing | 0.013 | N | 0.195 | neutral | None | None | None | None | N |
| R/W | 0.1761 | likely_benign | 0.1678 | benign | -0.489 | Destabilizing | 0.995 | D | 0.255 | neutral | None | None | None | None | N |
| R/Y | 0.3788 | ambiguous | 0.354 | ambiguous | -0.086 | Destabilizing | 0.981 | D | 0.351 | neutral | 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.