Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30645 | 92158;92159;92160 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| N2AB | 29004 | 87235;87236;87237 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| N2A | 28077 | 84454;84455;84456 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| N2B | 21580 | 64963;64964;64965 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| Novex-1 | 21705 | 65338;65339;65340 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| Novex-2 | 21772 | 65539;65540;65541 | chr2:178549789;178549788;178549787 | chr2:179414516;179414515;179414514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1237954818  |
-0.554 | 0.171 | N | 0.245 | 0.25 | 0.33085137897 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1237954818 |
-0.554 | 0.171 | N | 0.245 | 0.25 | 0.33085137897 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1237954818 |
-0.554 | 0.171 | N | 0.245 | 0.25 | 0.33085137897 | gnomAD-4.0.0 | 1.86164E-06 | None | None | None | None | I | None | 2.67158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48875E-07 | 0 | 0 |
| L/I | None | None | 0.055 | N | 0.254 | 0.1 | 0.21279746466 | gnomAD-4.0.0 | 3.42626E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50459E-06 | 0 | 0 |
| L/P | rs886038985 |
-0.024 | 0.106 | N | 0.356 | 0.211 | 0.596177834036 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs886038985 |
-0.024 | 0.106 | N | 0.356 | 0.211 | 0.596177834036 | gnomAD-4.0.0 | 4.7899E-06 | None | None | None | None | I | None | 0 | 6.86593E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.0869 | likely_benign | 0.0879 | benign | -0.429 | Destabilizing | None | N | 0.132 | neutral | None | None | None | None | I |
| L/C | 0.3226 | likely_benign | 0.3302 | benign | -0.7 | Destabilizing | 0.676 | D | 0.245 | neutral | None | None | None | None | I |
| L/D | 0.222 | likely_benign | 0.2613 | benign | -0.112 | Destabilizing | 0.016 | N | 0.313 | neutral | None | None | None | None | I |
| L/E | 0.1046 | likely_benign | 0.1206 | benign | -0.211 | Destabilizing | None | N | 0.172 | neutral | None | None | None | None | I |
| L/F | 0.109 | likely_benign | 0.1205 | benign | -0.576 | Destabilizing | 0.171 | N | 0.245 | neutral | N | 0.496118857 | None | None | I |
| L/G | 0.2398 | likely_benign | 0.2424 | benign | -0.543 | Destabilizing | 0.016 | N | 0.319 | neutral | None | None | None | None | I |
| L/H | 0.124 | likely_benign | 0.1313 | benign | 0.095 | Stabilizing | None | N | 0.253 | neutral | N | 0.493641859 | None | None | I |
| L/I | 0.0709 | likely_benign | 0.0733 | benign | -0.258 | Destabilizing | 0.055 | N | 0.254 | neutral | N | 0.498298318 | None | None | I |
| L/K | 0.1088 | likely_benign | 0.1115 | benign | -0.247 | Destabilizing | 0.031 | N | 0.297 | neutral | None | None | None | None | I |
| L/M | 0.0929 | likely_benign | 0.091 | benign | -0.468 | Destabilizing | 0.628 | D | 0.256 | neutral | None | None | None | None | I |
| L/N | 0.1492 | likely_benign | 0.1533 | benign | -0.085 | Destabilizing | 0.038 | N | 0.369 | neutral | None | None | None | None | I |
| L/P | 0.135 | likely_benign | 0.1437 | benign | -0.285 | Destabilizing | 0.106 | N | 0.356 | neutral | N | 0.515150495 | None | None | I |
| L/Q | 0.0718 | likely_benign | 0.0739 | benign | -0.284 | Destabilizing | 0.072 | N | 0.369 | neutral | None | None | None | None | I |
| L/R | 0.1112 | likely_benign | 0.117 | benign | 0.238 | Stabilizing | 0.055 | N | 0.364 | neutral | N | 0.482558074 | None | None | I |
| L/S | 0.1009 | likely_benign | 0.1056 | benign | -0.494 | Destabilizing | 0.016 | N | 0.272 | neutral | None | None | None | None | I |
| L/T | 0.0962 | likely_benign | 0.1001 | benign | -0.487 | Destabilizing | 0.031 | N | 0.317 | neutral | None | None | None | None | I |
| L/V | 0.0674 | likely_benign | 0.0681 | benign | -0.285 | Destabilizing | 0.012 | N | 0.247 | neutral | N | 0.475960176 | None | None | I |
| L/W | 0.2015 | likely_benign | 0.2296 | benign | -0.594 | Destabilizing | 0.864 | D | 0.235 | neutral | None | None | None | None | I |
| L/Y | 0.21 | likely_benign | 0.2146 | benign | -0.342 | Destabilizing | 0.12 | N | 0.346 | neutral | None | None | None | None | I |
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.