Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18736 | 56431;56432;56433 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| N2AB | 17095 | 51508;51509;51510 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| N2A | 16168 | 48727;48728;48729 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| N2B | 9671 | 29236;29237;29238 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| Novex-1 | 9796 | 29611;29612;29613 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| Novex-2 | 9863 | 29812;29813;29814 | chr2:178599695;178599694;178599693 | chr2:179464422;179464421;179464420 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1033815030  |
None | 0.019 | N | 0.203 | 0.06 | 0.0762999501168 | gnomAD-4.0.0 | 1.59284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43423E-05 | 0 |
| T/N | rs1455791430 |
None | 0.096 | N | 0.245 | 0.083 | 0.186928172975 | gnomAD-4.0.0 | 1.09521E-05 | None | None | None | None | N | None | 2.99168E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34966E-05 | 0 | 0 |
| T/P | None | None | 0.301 | N | 0.354 | 0.158 | 0.186928172975 | gnomAD-4.0.0 | 1.59284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86136E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0667 | likely_benign | 0.0688 | benign | -0.185 | Destabilizing | 0.019 | N | 0.203 | neutral | N | 0.411358832 | None | None | N |
| T/C | 0.3351 | likely_benign | 0.3189 | benign | -0.241 | Destabilizing | 0.958 | D | 0.327 | neutral | None | None | None | None | N |
| T/D | 0.1937 | likely_benign | 0.1778 | benign | 0.004 | Stabilizing | 0.104 | N | 0.347 | neutral | None | None | None | None | N |
| T/E | 0.1411 | likely_benign | 0.1296 | benign | -0.084 | Destabilizing | 0.055 | N | 0.295 | neutral | None | None | None | None | N |
| T/F | 0.2533 | likely_benign | 0.2389 | benign | -0.805 | Destabilizing | 0.497 | N | 0.436 | neutral | None | None | None | None | N |
| T/G | 0.1604 | likely_benign | 0.1533 | benign | -0.269 | Destabilizing | 0.104 | N | 0.301 | neutral | None | None | None | None | N |
| T/H | 0.1684 | likely_benign | 0.1381 | benign | -0.456 | Destabilizing | 0.001 | N | 0.233 | neutral | None | None | None | None | N |
| T/I | 0.137 | likely_benign | 0.147 | benign | -0.088 | Destabilizing | 0.096 | N | 0.337 | neutral | N | 0.462038368 | None | None | N |
| T/K | 0.1119 | likely_benign | 0.103 | benign | -0.272 | Destabilizing | 0.002 | N | 0.173 | neutral | None | None | None | None | N |
| T/L | 0.0936 | likely_benign | 0.0943 | benign | -0.088 | Destabilizing | 0.055 | N | 0.307 | neutral | None | None | None | None | N |
| T/M | 0.0891 | likely_benign | 0.0892 | benign | -0.058 | Destabilizing | 0.667 | D | 0.344 | neutral | None | None | None | None | N |
| T/N | 0.079 | likely_benign | 0.0765 | benign | -0.039 | Destabilizing | 0.096 | N | 0.245 | neutral | N | 0.420517033 | None | None | N |
| T/P | 0.0922 | likely_benign | 0.099 | benign | -0.094 | Destabilizing | 0.301 | N | 0.354 | neutral | N | 0.385788383 | None | None | N |
| T/Q | 0.1169 | likely_benign | 0.1034 | benign | -0.261 | Destabilizing | 0.001 | N | 0.134 | neutral | None | None | None | None | N |
| T/R | 0.1266 | likely_benign | 0.1108 | benign | 0.042 | Stabilizing | 0.055 | N | 0.35 | neutral | None | None | None | None | N |
| T/S | 0.0806 | likely_benign | 0.0784 | benign | -0.199 | Destabilizing | 0.042 | N | 0.249 | neutral | N | 0.370818931 | None | None | N |
| T/V | 0.1146 | likely_benign | 0.1202 | benign | -0.094 | Destabilizing | 0.002 | N | 0.137 | neutral | None | None | None | None | N |
| T/W | 0.5429 | ambiguous | 0.503 | ambiguous | -0.881 | Destabilizing | 0.958 | D | 0.377 | neutral | None | None | None | None | N |
| T/Y | 0.2376 | likely_benign | 0.2171 | benign | -0.565 | Destabilizing | 0.124 | N | 0.418 | 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.