Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32936 | 99031;99032;99033 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| N2AB | 31295 | 94108;94109;94110 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| N2A | 30368 | 91327;91328;91329 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| N2B | 23871 | 71836;71837;71838 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| Novex-1 | 23996 | 72211;72212;72213 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| Novex-2 | 24063 | 72412;72413;72414 | chr2:178539129;178539128;178539127 | chr2:179403856;179403855;179403854 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs764276622  |
-2.15 | 1.0 | N | 0.855 | 0.381 | 0.588592515688 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 6.54E-05 | None | 4.64E-05 | 8.88E-06 | 0 |
| R/C | rs764276622 |
-2.15 | 1.0 | N | 0.855 | 0.381 | 0.588592515688 | gnomAD-4.0.0 | 2.12111E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.61861E-05 | 6.93963E-04 | 1.88895E-05 | 3.47794E-05 | 0 |
| R/H | rs774296358 |
-1.792 | 1.0 | N | 0.839 | 0.404 | None | gnomAD-2.1.1 | 5E-05 | None | None | None | None | N | None | 1.65358E-04 | 0 | None | 0 | 5.12E-05 | None | 2.61438E-04 | None | 0 | 7.81E-06 | 0 |
| R/H | rs774296358 |
-1.792 | 1.0 | N | 0.839 | 0.404 | None | gnomAD-3.1.2 | 9.21E-05 | None | None | None | None | N | None | 2.89729E-04 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| R/H | rs774296358 |
-1.792 | 1.0 | N | 0.839 | 0.404 | None | gnomAD-4.0.0 | 3.84239E-05 | None | None | None | None | N | None | 2.13675E-04 | 0 | None | 0 | 4.45812E-05 | None | 0 | 0 | 6.78111E-06 | 3.51293E-04 | 6.40512E-05 |
| R/S | None | None | 1.0 | N | 0.799 | 0.386 | 0.391156786388 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99501E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9765 | likely_pathogenic | 0.9619 | pathogenic | -2.222 | Highly Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | N |
| R/C | 0.6704 | likely_pathogenic | 0.55 | ambiguous | -2.327 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.493447071 | None | None | N |
| R/D | 0.9957 | likely_pathogenic | 0.9929 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| R/E | 0.9498 | likely_pathogenic | 0.9263 | pathogenic | -1.832 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/F | 0.9471 | likely_pathogenic | 0.9157 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| R/G | 0.9546 | likely_pathogenic | 0.9321 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.503434778 | None | None | N |
| R/H | 0.4843 | ambiguous | 0.4181 | ambiguous | -1.74 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.509995391 | None | None | N |
| R/I | 0.8986 | likely_pathogenic | 0.8424 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| R/K | 0.32 | likely_benign | 0.2747 | benign | -1.455 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| R/L | 0.8543 | likely_pathogenic | 0.7995 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.499564967 | None | None | N |
| R/M | 0.8905 | likely_pathogenic | 0.8193 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| R/N | 0.9872 | likely_pathogenic | 0.9795 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| R/P | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.496220989 | None | None | N |
| R/Q | 0.4888 | ambiguous | 0.4177 | ambiguous | -2.01 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| R/S | 0.9845 | likely_pathogenic | 0.9731 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.503088062 | None | None | N |
| R/T | 0.9588 | likely_pathogenic | 0.9257 | pathogenic | -2.514 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/V | 0.9186 | likely_pathogenic | 0.8721 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| R/W | 0.6247 | likely_pathogenic | 0.5675 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| R/Y | 0.8054 | likely_pathogenic | 0.7283 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | 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.