Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| N2AB | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| N2A | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| N2B | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| Novex-1 | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| Novex-2 | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
| Novex-3 | 146 | 661;662;663 | chr2:178800542;178800541;178800540 | chr2:179665269;179665268;179665267 |
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/N | rs1029708061  |
0.058 | 0.004 | N | 0.213 | 0.233 | 0.167679373172 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.705(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| S/N | rs1029708061 |
0.058 | 0.004 | N | 0.213 | 0.233 | 0.167679373172 | gnomAD-4.0.0 | 3.4203E-06 | None | None | None | -0.705(TCAP) | N | None | 2.98686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59718E-06 | 0 | 0 |
| S/R | None | None | 0.993 | N | 0.556 | 0.585 | 0.550088011563 | gnomAD-4.0.0 | 3.42031E-06 | None | None | None | -0.407(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49648E-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 | 0.17 | likely_benign | 0.1736 | benign | -0.264 | Destabilizing | 0.315 | N | 0.365 | neutral | None | None | None | -0.16(TCAP) | N |
| S/C | 0.6318 | likely_pathogenic | 0.5882 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.569 | neutral | D | 0.636185953 | None | -0.295(TCAP) | N |
| S/D | 0.6872 | likely_pathogenic | 0.7418 | pathogenic | 0.295 | Stabilizing | 0.883 | D | 0.384 | neutral | None | None | None | -0.346(TCAP) | N |
| S/E | 0.7485 | likely_pathogenic | 0.7938 | pathogenic | 0.196 | Stabilizing | 0.955 | D | 0.38 | neutral | None | None | None | -0.43(TCAP) | N |
| S/F | 0.8007 | likely_pathogenic | 0.8138 | pathogenic | -0.919 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | -0.109(TCAP) | N |
| S/G | 0.224 | likely_benign | 0.2408 | benign | -0.353 | Destabilizing | 0.955 | D | 0.35 | neutral | N | 0.519947925 | None | -0.148(TCAP) | N |
| S/H | 0.7398 | likely_pathogenic | 0.7666 | pathogenic | -0.841 | Destabilizing | 0.999 | D | 0.56 | neutral | None | None | None | 0.543(TCAP) | N |
| S/I | 0.7335 | likely_pathogenic | 0.738 | pathogenic | -0.163 | Destabilizing | 0.999 | D | 0.606 | neutral | N | 0.516903315 | None | -0.237(TCAP) | N |
| S/K | 0.9283 | likely_pathogenic | 0.9423 | pathogenic | -0.366 | Destabilizing | 0.983 | D | 0.381 | neutral | None | None | None | -0.519(TCAP) | N |
| S/L | 0.4459 | ambiguous | 0.4362 | ambiguous | -0.163 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | -0.237(TCAP) | N |
| S/M | 0.6553 | likely_pathogenic | 0.639 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | 0.125(TCAP) | N |
| S/N | 0.3255 | likely_benign | 0.3506 | ambiguous | -0.113 | Destabilizing | 0.004 | N | 0.213 | neutral | N | 0.494015982 | None | -0.705(TCAP) | N |
| S/P | 0.2991 | likely_benign | 0.3185 | benign | -0.169 | Destabilizing | 0.997 | D | 0.553 | neutral | None | None | None | -0.204(TCAP) | N |
| S/Q | 0.7724 | likely_pathogenic | 0.8023 | pathogenic | -0.334 | Destabilizing | 0.998 | D | 0.49 | neutral | None | None | None | -0.622(TCAP) | N |
| S/R | 0.8958 | likely_pathogenic | 0.9186 | pathogenic | -0.199 | Destabilizing | 0.993 | D | 0.556 | neutral | N | 0.515973069 | None | -0.407(TCAP) | N |
| S/T | 0.23 | likely_benign | 0.2303 | benign | -0.223 | Destabilizing | 0.571 | D | 0.352 | neutral | N | 0.494451962 | None | -0.586(TCAP) | N |
| S/V | 0.6728 | likely_pathogenic | 0.6721 | pathogenic | -0.169 | Destabilizing | 0.993 | D | 0.601 | neutral | None | None | None | -0.204(TCAP) | N |
| S/W | 0.8143 | likely_pathogenic | 0.8389 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | -0.042(TCAP) | N |
| S/Y | 0.6068 | likely_pathogenic | 0.6361 | pathogenic | -0.655 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | 0.119(TCAP) | 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.