Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3222 | 9889;9890;9891 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| N2AB | 3222 | 9889;9890;9891 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| N2A | 3222 | 9889;9890;9891 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| N2B | 3176 | 9751;9752;9753 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| Novex-1 | 3176 | 9751;9752;9753 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| Novex-2 | 3176 | 9751;9752;9753 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
| Novex-3 | 3222 | 9889;9890;9891 | chr2:178766420;178766419;178766418 | chr2:179631147;179631146;179631145 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1157020180  |
None | 1.0 | D | 0.572 | 0.682 | 0.557637382247 | gnomAD-4.0.0 | 6.84101E-07 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 1.0 | D | 0.725 | 0.714 | 0.587508425673 | gnomAD-4.0.0 | 1.3682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79869E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9216 | likely_pathogenic | 0.8987 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/D | 0.9961 | likely_pathogenic | 0.995 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/E | 0.9939 | likely_pathogenic | 0.9921 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.693707763 | None | None | N |
| A/F | 0.9815 | likely_pathogenic | 0.9756 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/G | 0.7393 | likely_pathogenic | 0.7186 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.561 | neutral | D | 0.654652118 | None | None | N |
| A/H | 0.9954 | likely_pathogenic | 0.9936 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/I | 0.942 | likely_pathogenic | 0.9309 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/K | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/L | 0.8875 | likely_pathogenic | 0.8596 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/M | 0.947 | likely_pathogenic | 0.9433 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/N | 0.9922 | likely_pathogenic | 0.9897 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/P | 0.9952 | likely_pathogenic | 0.9922 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.581575923 | None | None | N |
| A/Q | 0.9906 | likely_pathogenic | 0.9871 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/R | 0.9911 | likely_pathogenic | 0.987 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/S | 0.5041 | ambiguous | 0.4976 | ambiguous | -1.74 | Destabilizing | 1.0 | D | 0.572 | neutral | D | 0.693766549 | None | None | N |
| A/T | 0.7718 | likely_pathogenic | 0.7728 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.633189849 | None | None | N |
| A/V | 0.7623 | likely_pathogenic | 0.7402 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.571592811 | None | None | N |
| A/W | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/Y | 0.9933 | likely_pathogenic | 0.9906 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.851 | 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.