Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25691 | 77296;77297;77298 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| N2AB | 24050 | 72373;72374;72375 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| N2A | 23123 | 69592;69593;69594 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| N2B | 16626 | 50101;50102;50103 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| Novex-1 | 16751 | 50476;50477;50478 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| Novex-2 | 16818 | 50677;50678;50679 | chr2:178569061;178569060;178569059 | chr2:179433788;179433787;179433786 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1296651230  |
-0.162 | 0.682 | N | 0.525 | 0.322 | 0.19670166235 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/G | rs1296651230 |
-0.162 | 0.682 | N | 0.525 | 0.322 | 0.19670166235 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1193 | likely_benign | 0.1453 | benign | -0.175 | Destabilizing | 0.518 | D | 0.461 | neutral | N | 0.468816982 | None | None | N |
| D/C | 0.52 | ambiguous | 0.598 | pathogenic | -0.33 | Destabilizing | 0.996 | D | 0.745 | deleterious | None | None | None | None | N |
| D/E | 0.0883 | likely_benign | 0.1049 | benign | -0.247 | Destabilizing | 0.003 | N | 0.194 | neutral | N | 0.38444995 | None | None | N |
| D/F | 0.4077 | ambiguous | 0.4971 | ambiguous | -0.035 | Destabilizing | 0.984 | D | 0.748 | deleterious | None | None | None | None | N |
| D/G | 0.169 | likely_benign | 0.2113 | benign | -0.338 | Destabilizing | 0.682 | D | 0.525 | neutral | N | 0.499332894 | None | None | N |
| D/H | 0.2555 | likely_benign | 0.3108 | benign | 0.558 | Stabilizing | 0.983 | D | 0.539 | neutral | N | 0.49954499 | None | None | N |
| D/I | 0.1878 | likely_benign | 0.2337 | benign | 0.207 | Stabilizing | 0.953 | D | 0.777 | deleterious | None | None | None | None | N |
| D/K | 0.3037 | likely_benign | 0.3749 | ambiguous | 0.228 | Stabilizing | 0.587 | D | 0.455 | neutral | None | None | None | None | N |
| D/L | 0.2283 | likely_benign | 0.2813 | benign | 0.207 | Stabilizing | 0.909 | D | 0.763 | deleterious | None | None | None | None | N |
| D/M | 0.3752 | ambiguous | 0.4587 | ambiguous | -0.005 | Destabilizing | 0.996 | D | 0.74 | deleterious | None | None | None | None | N |
| D/N | 0.0888 | likely_benign | 0.1037 | benign | -0.124 | Destabilizing | 0.682 | D | 0.491 | neutral | N | 0.504930714 | None | None | N |
| D/P | 0.6981 | likely_pathogenic | 0.7797 | pathogenic | 0.1 | Stabilizing | 0.953 | D | 0.543 | neutral | None | None | None | None | N |
| D/Q | 0.2361 | likely_benign | 0.2955 | benign | -0.081 | Destabilizing | 0.833 | D | 0.443 | neutral | None | None | None | None | N |
| D/R | 0.4035 | ambiguous | 0.4857 | ambiguous | 0.594 | Stabilizing | 0.909 | D | 0.685 | prob.delet. | None | None | None | None | N |
| D/S | 0.1027 | likely_benign | 0.1234 | benign | -0.246 | Destabilizing | 0.587 | D | 0.4 | neutral | None | None | None | None | N |
| D/T | 0.1435 | likely_benign | 0.1783 | benign | -0.104 | Destabilizing | 0.909 | D | 0.446 | neutral | None | None | None | None | N |
| D/V | 0.118 | likely_benign | 0.142 | benign | 0.1 | Stabilizing | 0.883 | D | 0.73 | deleterious | N | 0.471019028 | None | None | N |
| D/W | 0.86 | likely_pathogenic | 0.8983 | pathogenic | 0.092 | Stabilizing | 0.996 | D | 0.721 | deleterious | None | None | None | None | N |
| D/Y | 0.2019 | likely_benign | 0.2394 | benign | 0.206 | Stabilizing | 0.979 | D | 0.755 | deleterious | N | 0.498531032 | 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.