Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 976 | 3151;3152;3153 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| N2AB | 976 | 3151;3152;3153 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| N2A | 976 | 3151;3152;3153 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| N2B | 930 | 3013;3014;3015 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| Novex-1 | 930 | 3013;3014;3015 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| Novex-2 | 930 | 3013;3014;3015 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
| Novex-3 | 976 | 3151;3152;3153 | chr2:178782980;178782979;178782978 | chr2:179647707;179647706;179647705 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs267607155  |
-2.071 | 1.0 | D | 0.824 | 0.96 | 0.953454579525 |
Gerull (2002)
Herman (2012)
| None |
DCM 
|
het / comp het with R21201* | None | None | N | Linkage analysis in single DCM family, incomplete penetrance (n = 15, 11 affected, 4 unaffected carriers (total 35)) | None | None | None | None | None | None | None | None | None | None | None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/C | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.765753112 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -3.251 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.124 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/F | 0.7461 | likely_pathogenic | 0.7719 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/G | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | -3.151 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.765753112 | None | None | N |
| W/H | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/I | 0.9938 | likely_pathogenic | 0.9952 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 1.0 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/L | 0.9872 | likely_pathogenic | 0.9898 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.672600814 | None | None | N |
| W/M | 0.9976 | likely_pathogenic | 0.9981 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/Q | 1.0 | likely_pathogenic | 1.0 | pathogenic | -2.888 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/R | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.765753113 | None | None | N |
| W/S | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -3.233 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.765753112 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.031 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/V | 0.9946 | likely_pathogenic | 0.9962 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/Y | 0.9719 | likely_pathogenic | 0.9756 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.81 | 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.