Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| N2AB | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| N2A | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| N2B | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| Novex-1 | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| Novex-2 | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
| Novex-3 | 193 | 802;803;804 | chr2:178800401;178800400;178800399 | chr2:179665128;179665127;179665126 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 0.999 | D | 0.835 | 0.774 | 0.916481694761 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.866(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9618 | likely_pathogenic | 0.9696 | pathogenic | -2.019 | Highly Destabilizing | 0.984 | D | 0.707 | prob.neutral | D | 0.791811728 | None | -0.474(TCAP) | N |
| V/C | 0.9931 | likely_pathogenic | 0.9936 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | -1.829(TCAP) | N |
| V/D | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | -2.952 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.824724565 | None | -1.372(TCAP) | N |
| V/E | 0.9855 | likely_pathogenic | 0.9875 | pathogenic | -2.855 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | -1.553(TCAP) | N |
| V/F | 0.9295 | likely_pathogenic | 0.9299 | pathogenic | -1.36 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.825499012 | None | -0.866(TCAP) | N |
| V/G | 0.9606 | likely_pathogenic | 0.9652 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.824724565 | None | -0.36(TCAP) | N |
| V/H | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -0.624(TCAP) | N |
| V/I | 0.2141 | likely_benign | 0.2388 | benign | -1.028 | Destabilizing | 0.005 | N | 0.57 | neutral | D | 0.639522023 | None | -0.893(TCAP) | N |
| V/K | 0.9894 | likely_pathogenic | 0.9903 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | -2.003(TCAP) | N |
| V/L | 0.8236 | likely_pathogenic | 0.8636 | pathogenic | -1.028 | Destabilizing | 0.832 | D | 0.722 | prob.delet. | D | 0.721755778 | None | -0.893(TCAP) | N |
| V/M | 0.9354 | likely_pathogenic | 0.9489 | pathogenic | -1.193 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | -1.213(TCAP) | N |
| V/N | 0.9898 | likely_pathogenic | 0.9917 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -1.259(TCAP) | N |
| V/P | 0.9894 | likely_pathogenic | 0.9913 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | -0.742(TCAP) | N |
| V/Q | 0.9868 | likely_pathogenic | 0.9874 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | -1.447(TCAP) | N |
| V/R | 0.9763 | likely_pathogenic | 0.9773 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -1.893(TCAP) | N |
| V/S | 0.975 | likely_pathogenic | 0.9788 | pathogenic | -2.327 | Highly Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | -1.156(TCAP) | N |
| V/T | 0.9495 | likely_pathogenic | 0.9576 | pathogenic | -2.124 | Highly Destabilizing | 0.97 | D | 0.79 | deleterious | None | None | None | -1.348(TCAP) | N |
| V/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | -1.248(TCAP) | N |
| V/Y | 0.992 | likely_pathogenic | 0.9913 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -0.888(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.