Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| N2AB | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| N2A | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| N2B | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| Novex-1 | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| Novex-2 | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
| Novex-3 | 187 | 784;785;786 | chr2:178800419;178800418;178800417 | chr2:179665146;179665145;179665144 |
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/L | rs754029303  |
-0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | -0.913(TCAP) | N | None | 4.01E-05 | 0 | None | 0 | 5.01E-05 | None | 0 | None | 0 | 7.75E-06 | 0 |
| S/L | rs754029303 |
-0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.913(TCAP) | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs754029303 |
-0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-4.0.0 | 8.05453E-06 | None | None | None | -0.913(TCAP) | N | None | 1.33543E-05 | 0 | None | 0 | 8.91027E-05 | None | 0 | 3.28731E-04 | 4.23727E-06 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2425 | likely_benign | 0.2492 | benign | -0.833 | Destabilizing | 0.997 | D | 0.589 | neutral | N | 0.503435424 | None | -0.815(TCAP) | N |
| S/C | 0.4803 | ambiguous | 0.4345 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | -0.642(TCAP) | N |
| S/D | 0.9345 | likely_pathogenic | 0.9475 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | -1.01(TCAP) | N |
| S/E | 0.9653 | likely_pathogenic | 0.9707 | pathogenic | 0.295 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | -1.065(TCAP) | N |
| S/F | 0.9602 | likely_pathogenic | 0.9608 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | -0.992(TCAP) | N |
| S/G | 0.4889 | ambiguous | 0.4714 | ambiguous | -1.118 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | -0.81(TCAP) | N |
| S/H | 0.9614 | likely_pathogenic | 0.9592 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -0.253(TCAP) | N |
| S/I | 0.9185 | likely_pathogenic | 0.9262 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | -0.913(TCAP) | N |
| S/K | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | -1.349(TCAP) | N |
| S/L | 0.8119 | likely_pathogenic | 0.8197 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.612485292 | None | -0.913(TCAP) | N |
| S/M | 0.8628 | likely_pathogenic | 0.8685 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | -0.527(TCAP) | N |
| S/N | 0.8194 | likely_pathogenic | 0.8246 | pathogenic | -0.337 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | -0.807(TCAP) | N |
| S/P | 0.9954 | likely_pathogenic | 0.996 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.70428905 | None | -0.867(TCAP) | N |
| S/Q | 0.9695 | likely_pathogenic | 0.9715 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | -0.887(TCAP) | N |
| S/R | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -1.462(TCAP) | N |
| S/T | 0.3143 | likely_benign | 0.3212 | benign | -0.406 | Destabilizing | 0.988 | D | 0.602 | neutral | N | 0.497472054 | None | -1.079(TCAP) | N |
| S/V | 0.8294 | likely_pathogenic | 0.8416 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -0.867(TCAP) | N |
| S/W | 0.9792 | likely_pathogenic | 0.9782 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.627456459 | None | -1.356(TCAP) | N |
| S/Y | 0.9264 | likely_pathogenic | 0.924 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | -0.921(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.